metabolic panel ngs

1. IEM
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2. GENE OMIM-phenotype Zyg
GNPAT Rhizomelic chondrodysplasia punctata, type 2, 222765 AR
PNPLA2 Neutral lipid storage disease with myopathy, 610717 AR
PUS1 Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 AR
PCK2 PEPCK deficiency, mitochondrial, 261650 (1 AR
GNPTG Mucolipidosis III gamma, 252605 AR
ACE
{Stroke, hemorrhagic}, 614519 ; Renal tubular dysgenesis, 267430 ; {Myocardial infarction, susceptibility to} (3); {Microvascular
complications of diabetes 3}, 612624 (3); [Angiotensin I-converting enzyme, benign serum increase] (3); {SARS, progression of}
AR
ACSL3 Fatty acids are incorporated into membranes and signaling molecules and have roles in energy storage and metabolism.
SLC6A6 Hypotaurinemic retinal degeneration and cardiomyopathy, 145350 AR
VARS2 Combined oxidative phosphorylation deficiency 20, 615917 AR
ENPP1
{Obesity, susceptibility to}, 601665 ; Hypophosphatemic rickets,AR, 2, 613312 ; {Diabetes mellitus, non-insulin-dependent, susceptibility
to}, 125853 ; Arterial calcification, generalized, of infancy, 1, 208000 ; Cole disease, 615522
Multifactorial,AR,AD
SERAC1 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 AR
KCTD7 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 AR
IMPA1 Mental retardation, autosomal recessive 59, 617323 AR
VPS13A Choreoacanthocytosis, 200150 AR
SLC6A8 Cerebral creatine deficiency syndrome 1, 300352 X-LR
TALDO1 Transaldolase deficiency, 606003 AR
MUC6
The MUC6 gene encodes gastric mucin, a secreted glycoprotein that plays an essential role in epithelial cytoprotection from acid,
proteases, pathogenic microorganisms, and mechanical trauma in the gastrointestinal tract
FOLR2 The FOLR2 gene encodes a placental folate-binding protein
GCH1 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 ; Hyperphenylalaninemia, BH4-deficient, B, 233910 AR,AD
CLN6 Ceroid lipofuscinosis, neuronal, 6, 601780 ; Ceroid lipofuscinosis, neuronal, 4A (Kufs typeAR, 204300 AR
APOE
Alzheimer disease 2, 104310 ; Sea-blue histiocyte disease, 269600; {?Alzheimer disease, protection against, due to APOE3-Christchurch},
607822; {Coronary artery disease, severe, susceptibility to}, 617347 ; Lipoprotein glomerulopathy, 611771 ; {?Macular degeneration,
age-related}, 603075; Hyperlipoproteinemia, type III, 617347
AD,AR
CPS1 Carbamoylphosphate synthetase I deficiency, 237300 ; {Pulmonary hypertension, neonatal, susceptibility to}, 615371 AR
DPM1 Congenital disorder of glycosylation, type Ie, 608799 AR
CYP39A1
CYP39A1 is a microsomal cytochrome P450 enzyme expressed in liver that converts 24-hydroxycholesterol into a 7-alpha-hydroxylated
product
GUSB Mucopolysaccharidosis VII, 253220 AR
COG5 Congenital disorder of glycosylation, type IIi, 613612 AR
ASAH1 Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 ; Farber lipogranulomatosis, 228000 AR
IMPAD1 Chondrodysplasia with joint disloca ons, GPAPP type AR
ALG6 Congenital disorder of glycosylation, type Ic, 603147 AR
AGL Glycogen storage disease IIIa, 232400 ; Glycogen storage disease IIIb, 232400 AR
ION TORRENT -IEM panel
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3. GENE OMIM-phenotype Zyg
TPH1
TPH expression is limited to a few specialized tissues: raphe neurons, pinealocytes, mast cells, mononuclear leukocytes, beta-cells of the
islets of Langerhans, and intestinal and pancreatic enterochromaffin cells.
DPAGT1 Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 ; Congenital disorder of glycosylation, type Ij, 608093 AR
SLCO1B1 Hyperbilirubinemia, Rotor type, digenic, 237450 Digenic recessive
GYS2 Glycogen storage disease 0, liver, 240600 AR
PNPT1 Deafness,AR 70, 614934 ; Combined oxidative phosphorylation deficiency 13, 614932 AR
GLB1
GM1-gangliosidosis, type I, 230500 ; GM1-gangliosidosis, type III, 230650 ; Mucopolysaccharidosis type IVB 253010; GM1-gangliosidosis,
type II, 230600
AR
ACAT2 ?ACAT2 deficiency, 614055 (1 Isolated cases
PEX1
Heimler syndrome 1, 234580; Peroxisome biogenesis disorder 1B (NALD/IRD 601539; Peroxisome biogenesis disorder 1A (Zellweger
214100
AR
SLC25A13 Citrullinemia, type II, neonatal-onset, 605814 ; Citrullinemia, adult-onset type II, 603471 AR
OPLAH 5-oxoprolinase deficiency, 260005 AR,AD
GK Glycerol kinase deficiency, 307030 X-LR
SCP2 ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 AR
ACADM Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 AR
LYST Chediak-Higashi syndrome, 214500 AR
DHTKD1 ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 ; Alpha-aminoadipic and alpha-ketoadipic aciduria, 204750 AD
CHAT Myasthenic syndrome, congenital, 6, presynaptic, 254210 AR
PEX16 Peroxisome biogenesis disorder 8B, 614877; Peroxisome biogenesis disorder 8A (Zellweger614876 AR
SLC37A4 Glycogen storage disease Ib, 232220 ; Glycogen storage disease Ic, 232240 AR
NR1H4 Cholestasis, progressive familial intrahepatic, 5, 617049 AR
ALG11 Congenital disorder of glycosylation, type Ip, 613661 AR
MLYCD Malonyl-CoA decarboxylase deficiency, 248360 AR
MAN2B1 Mannosidosis, alpha-, types I and II, 248500 AR
MPV17L2 plays a key role in mitochondrial protein synthesis and is required for assembly and stability of the mitochondrial ribosome
SLC25A1 Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 ; Myasthenic syndrome, congenital, 23, presynaptic, 618197 AR
MIOX
MIOX; EC 1.13.99.1) catalyzes the first committed step in the only pathway of myoinositol catabolism, which occurs predominantly in
the kidney
SERPINI1 Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 AD
MFSD8 Macular dystrophy with central cone involvement, 616170 ; Ceroid lipofuscinosis, neuronal, 7, 610951 AR
LMBRD1 Methylmalonic aciduria and homocystinuria, cblF type, 277380 AR
ENPP3
These enzymes are type II transmembrane proteins that catalyze the cleavage of phosphodiester and phosphosulfate bonds of a variety
of molecules, including deoxynucleotides, NAD, and nucleotide sugars. Other members of this family include PC1
AASS Hyperlysinemia, 238700 AR
HRSP12
proteins from rat liver by 5% perchloric acid, and they designated it PSP for 'perchloric acid-soluble protein.' They cloned the rat gene by
screening a liver cDNA expression library with anti-PSP antibodies.
RRM2B
Mitochondrial DNA depletion syndrome 8B ; Mitochondrial DNA depletion syndrome 8A 612075; Progressive external ophthalmoplegia
with mitochondrial DNA deletions,AD 5, 613077
AR,AD
TAZ Barth syndrome XLR
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4. GENE OMIM-phenotype Zyg
LRP4 ?Myasthenic syndrome, congenital, 17, 616304 ; Sclerosteosis 2, 614305 ; Cenani-Lenz syndactyly syndrome, 212780 AR,AD
DENR
isolated a cDNA corresponding to a novel density-regulated protein, which they designated DRP, from the human teratocarcinoma cell
line PA-1
PHKB Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 AR
RANBP2 {Encephalopathy, acute, infection-induced, 3, susceptibility to}, 608033 AD
PANK2 HARP syndrome, 607236 ; Neurodegeneration with brain iron accumulation 1, 234200 AR
GFM1 Combined oxidative phosphorylation deficiency 1, 609060 AR
MANBA Mannosidosis, beta, 248510 AR
HADH Hyperinsulinemic hypoglycemia, familial, 4, 609975 ; 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 AR
MTRR Homocystinuria-megaloblastic anemia, cbl E type, 236270 ; {Neural tube defects, folate-sensitive, susceptibility to}, 601634 AR
DLD Dihydrolipoamide dehydrogenase deficiency, 246900 AR
TCIRG1 Osteopetrosis, autosomal recessive 1, 259700 AR
ALG8 Congenital disorder of glycosylation, type Ih, 608104 ; Polycystic liver disease 3 with or without kidney cysts, 617874 AR
ACAT1 Alpha-methylacetoacetic aciduria, 203750 AR
LDHB [Lactate dehydrogenase-B deficiency], 614128 0
COG6 Shaheen syndrome, 615328 ; Congenital disorder of glycosylation, type IIl, 614576 AR
SUCLA2 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria 612073 AR
PCCA Propionicacidemia, 606054 AR
SLC12A3 Gitelman syndrome, 263800 AR
COG1 Congenital disorder of glycosylation, type IIg, 611209 AR
ATP5A1 ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4 AR
APOB Hypercholesterolemia, familial, 2, 144010 ; Hypobetalipoproteinemia, 615558 AD
HADHA
HELLP syndrome, maternal, of pregnancy, 609016 ; Mitochondrial trifunctional protein deficiency, 609015 ; LCHAD deficiency, 609016 ;
Fatty liver, acute, of pregnancy, 609016
AR
TF Atransferrinemia, 209300 AR
ACOX3
2-methyl branched fatty acids and the bile acid intermediates di- and tri-hydroxycoprostanic acids are desaturated in the peroxisomes
by pristanoyl-CoA oxidase and trihydroxycoprostanoyl-CoA oxidase, respectively
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities, 604278 AR
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 AR
SLCO4C1 SLCO4C1 belongs to the organic anion transporter (OATP) family.
LARS #N/A #N/A
PEX7 Rhizomelic chondrodysplasia punctata, type 1, 215100 ; Peroxisome biogenesis disorder 9B, 614879 AR
UTRN UTRN gene encodes utrophin, a large skeletal muscle protein that shows similarities to dystrophin
ASNS Asparagine synthetase deficiency, 615574 AR
DECR1
The enzyme 2,4-dienoyl-CoA reductase (EC 1.3.1.34) is an auxiliary enzyme of beta oxidation. It participates in the metabolism of
unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions
DBH Orthostatic hypotension 1, due to DBH deficiency, 223360 AR
HPRT1 Hyperuricemia, HRPT-related, 300323 ; Lesch-Nyhan syndrome, 300322 X-LR
ANGPTL3 Hypobetalipoproteinemia, familial, 2, 605019 AR
ABCD3 ?Bile acid synthesis defect, congenital, 5, 616278 AR
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5. GENE OMIM-phenotype Zyg
MAN1A2 PRESENT IN ION TORRENT PANELS 0
PHYH Refsum disease, 266500 AR
FAR1 Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 ; Cataracts, spastic paraparesis, and speech delay, 619338 AR
PYGM McArdle disease, 232600 AR
ETHE1 Ethylmalonic encephalopathy, 602473 AR
SUCLG1 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria 245400 AR
MRPL44 ?Combined oxidative phosphorylation deficiency 16, 615395 AR
SLC19A1 ?Megaloblastic anemia, folate-responsive, 601775 AR
HPS3 Hermansky-Pudlak syndrome 3, 614072 AR
HSD17B4 D-bifunctional protein deficiency, 261515 ; Perrault syndrome 1, 233400 AR
MTO1 Combined oxidative phosphorylation deficiency 10, 614702 AR
SLC17A5 Salla disease, 604369 ; Sialic acid storage disorder, infantile, 269920 AR
CYP7A1 Cholesterol 7-alpha-hydroxylase is a microsomal cytochrome P450 that catalyzes the first step in bile acid synthesis.
CYP7B1 Spastic paraplegia 5A,AR, 270800 ; Bile acid synthesis defect, congenital, 3, 613812 AR
PHKA2 Glycogen storage disease, type IXa2, 306000 ; Glycogen storage disease, type IXa1, 306000 X-LR
DBT Maple syrup urine disease, type II, 248600 AR
AKR1C2 46XY sex reversal 8, 614279 AR
NARS2 Combined oxidative phosphorylation deficiency 24, 616239 ; ?Deafness,AR 94, 618434 AR
DNM1L Optic atrophy 5, 610708 ; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 AD,AR
SLC25A3 Mitochondrial phosphate carrier deficiency, 610773 AR
PXMP2 PXMP2 is a major component of peroxisomal membranes
IVD Isovaleric acidemia, 243500 AR
CLCN7
Hypopigmentation, organomegaly, and delayed myelination and development, 618541 ; Osteopetrosis,AR 4, 611490; Osteopetrosis,AD
2, 166600
AD,AR
ATP8B1
Cholestasis, progressive familial intrahepatic 1, 211600 ; Cholestasis, intrahepatic, of pregnancy, 1, 147480; Cholestasis, benign
recurrent intrahepatic, 243300
AR,AD
SULT2A1
The SULT2A1 gene encodes dehydroepiandrosterone sulfotransferase (DHEAST), which catalyzes the 3-prime-phosphoadenosine 5-
prime-phosphosulfate-dependent sulfation of a wide variety of steroids in human liver and adrenal tissue and is responsible for
sulfation of bile acids in human liver
MCEE Methylmalonyl-CoA epimerase deficiency, 251120 AR
LRP2 Donnai-Barrow syndrome, 222448 AR
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 AR
DMP1 Hypophosphatemic rickets, AR, 241520 AR
ETFDH Glutaric acidemia IIC, 231680 AR
AMACR Alpha-methylacyl-CoA racemase deficiency, 614307 ; Bile acid synthesis defect, congenital, 4, 214950 AR
MCCC2 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 AR
MAN1A1 catalyzes the removal of 3 distinct mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides.
GBA2 Spastic paraplegia 46, autosomal recessive, 614409 AR
MAOB The MAOB gene encodes monoamine oxidase B
ALG13 ?Congenital disorder of glycosylation, type Is, 300884 ; Developmental and epileptic encephalopathy 36, 300884 X-linked
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6. GENE OMIM-phenotype Zyg
TMLHE {Autism, susceptibility to, X-linked 6}, 300872 X-LR
MTHFR
{Vascular disease, susceptibility to} ; {Thromboembolism, susceptibility to}, 188050 ; {Schizophrenia, susceptibility to}, 181500 ; {Neural
tube defects, susceptibility to}, 601634
AD,AR
AMPD1 Myopathy due to myoadenylate deaminase deficiency, 615511 AR
LRP5
Osteopetrosis,AD 1, 607634 ; [Bone mineral density variability 1], 601884 ; {Osteoporosis}, 166710 ; Hyperostosis, endosteal, 144750 ;
Osteosclerosis, 144750 ; Polycystic liver disease 4 with or without kidney cysts, 617875 ; Osteoporosis-pseudoglioma syndrome, 259770;
Exudative vitreoretinopathy 4, 601813 ; van Buchem disease, type 2, 607636
AR,AD
ATP7B Wilson disease, 277900 AR
SLC12A1 Bartter syndrome, type 1, 601678 AR
ABAT GABA-transaminase deficiency, 613163 AR
CLN3 Ceroid lipofuscinosis, neuronal, 3, 204200 AR
AGPS Rhizomelic chondrodysplasia punctata, type 3, 600121 AR
CBS Thrombosis, hyperhomocysteinemic, 236200 ; Homocystinuria, B6-responsive and nonresponsive types, 236200 AR
NAT8L ?N-acetylaspartate deficiency, 614063 AR
CORIN Preeclampsia/eclampsia 5, 614595 0
UGT2B28
UGT2B glycosyltransferases catalyze the transfer of glucuronic acid to a large number of endogenous compounds, particularly steroids,
to facilitate their elimination from target cells.
HEXB Sandhoff disease, infantile, juvenile, and adult forms, 268800 AR
HMGCR [Statins, attenuated cholesterol lowering by] ; [Low density lipoprotein cholesterol level QTL 3] 0
CROT is a carnitine acyltransferase that catalyzes the reversible transfer of fatty acyl groups between CoA and carnitine.
SLC25A32 ?Exercise intolerance, riboflavin-responsive, 616839 AR
CYC1 Mitochondrial complex III deficiency, nuclear type 6, 615453 AR
ABCA1 Tangier disease, 205400 ; HDL deficiency, familial, 1, 604091 AR
CTSD Ceroid lipofuscinosis, neuronal, 10, 610127 AR
HNF1A
Hepatic adenoma, somatic, 142330 ; MODY, type III, 600496 ; {Diabetes mellitus, insulin-dependent}, 222100 ; Renal cell carcinoma,
144700
AD,AR
SLC3A1 Cystinuria, 220100 AR,AD
MMADHC
Methylmalonic aciduria, cblD type, variant 2, 277410 ; Methylmalonic aciduria and homocystinuria, cblD type, 277410 ;
Homocystinuria, cblD type, variant 1, 277410
AR
ATIC AICA-ribosiduria due to ATIC deficiency, 608688 AR
SAMHD1 ?Chilblain lupus 2, 614415 ; Aicardi-Goutieres syndrome 5, 612952 AD
ACY1 Aminoacylase 1 deficiency, 609924 AR
RFT1 Congenital disorder of glycosylation, type In, 612015 AR
HGD Alkaptonuria, 203500 AR
UMPS Orotic aciduria, 258900 AR
MRPL3 Combined oxidative phosphorylation deficiency 9, 614582 AR
EGF Hypomagnesemia 4, renal, 611718 0
SLC6A19 Iminoglycinuria, digenic, 242600 ; Hartnup disorder, 234500 ; Hyperglycinuria, 138500 Digenic recessive,AR,AD
ECI2 PECI is an auxiliary enzyme that catalyzes an isomerization step required for the beta-oxidation of unsaturated fatty acids.
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7. GENE OMIM-phenotype Zyg
CYP21A2
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 ; Adrenal hyperplasia, congenital, due to 21-hydroxylase
deficiency, 201910
AR
MUT Methylmalonic aciduria, mut(0) type AR
HGSNAT Mucopolysaccharidosis type IIIC 252930; Retinitis pigmentosa 73, 616544 AR
GNE Sialuria, 269921 ; Nonaka myopathy, 605820 AD
ALDH4A1 Hyperprolinemia, type II, 239510 AR
GLUD1 Hyperinsulinism-hyperammonemia syndrome, 606762 AD
ALG9 Gillessen-Kaesbach-Nishimura syndrome, 263210 ; Congenital disorder of glycosylation, type Il, 608776 AR
ABCD2
described the cloning and characterization of a mouse Ald-related gene, symbolized Aldr by them, that codes for a 741-amino acid
protein sharing the same half-ABC transporter structure and 66% sequence identity with the ABCD1 protein (300371), which is mutant
in X-linked adrenoleukodystrophy
ALDH6A1 Methylmalonate semialdehyde dehydrogenase deficiency, 614105 AR
LIPC
{Diabetes mellitus, noninsulin-dependent}, 125853 ; Hepatic lipase deficiency, 614025 ; [High density lipoprotein cholesterol level QTL
12], 612797
AR,AD
GCSH ?Glycine encephalopathy, 605899 AR
ENO3 ?Glycogen storage disease XIII, 612932 AR
LPIN1 Myoglobinuria, acute recurrent, autosomal recessive, 268200 AR
ABCG5 Sitosterolemia 2, 618666 AR
GBE1 Glycogen storage disease IV, 232500 ; Polyglucosan body disease, adult form, 263570 AR
TDO2 [?Hypertryptophanemia], 600627 AR
SLC6A18
SLC6A18, act as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6
proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions
BCKDHB Maple syrup urine disease, type Ib, 248600 AR
SLC22A16
Organic ion transporters, such as SLC22A16, transport various medically and physiologically important compounds, including
pharmaceuticals, toxins, hormones, neurotransmitters, and cellular metabolites. These transporters are also referred to as amphiphilic
solute facilitators
RMND1 Combined oxidative phosphorylation deficiency 11, 614922 AR
DMTF1
Using mouse cyclin D2 (123833) as bait in a yeast 2-hybrid screen, Hirai and Sherr (1996) cloned mouse Dmp1 from a T-lymphoma cDNA
library. Dmp1 contains 3 central imperfect Myb
TMEM135
Using microarray analysis to identify genes differentially expressed by human multipotent adipose tissue-derived stem cells (MADS)
committed to adipogenic or osteoblastogenic differentiation
FDX1
Ferredoxin is a small, acidic, iron-sulfur protein that functions as an electron transport intermediate for mitochondrial cytochromes
P450 involved in steroid, vitamin D, and bile acid metabolism. Electrons are transferred from NADPH through a flavin-containing protein
(ferredoxin oxidoreductase) and ferredoxin to the terminal cytochrome P450 for oxidation/reduction reactions
APOA1
Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding, 618463 ; Amyloidosis, 3 or more types, 105200 ; ApoA-I and
apoC-III deficiency, combined, 618463
AD
HAL [Histidinemia], 235800 AR,AD
GNPTAB Mucolipidosis III alpha/beta, 252600 ; Mucolipidosis II alpha/beta, 252500 AR
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8. GENE OMIM-phenotype Zyg
ETFA Glutaric acidemia IIA, 231680 AR
ALG1 Congenital disorder of glycosylation, type Ik, 608540 AR
COG8 Congenital disorder of glycosylation, type IIh, 611182 0
ASPA Canavan disease, 271900 AR
HCRT ?Narcolepsy 1, 161400 AD
FTCD Glutamate formiminotransferase deficiency, 229100 AR
KLB dentified a partial human cDNA encoding KLB.
TMEM165 Congenital disorder of glycosylation, type IIk, 614727 AR
ACSL1 Activation of long chain fatty acids by long chain acyl-coenzyme A (CoA) synthetase (LACS, or ACSL1
NUDT12 Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors.
SLC22A4 {Rheumatoid arthritis, susceptibility to}, 180300 0
OSTM1 Osteopetrosis, autosomal recessive 5, 259720 AR
PEX3 Peroxisome biogenesis disorder 10A 614882; ?Peroxisome biogenesis disorder 10B, 617370 AR
ACSL4 Mental retardation, X-linked 63, 300387 X-linked dominant
LIPA Wolman disease, 278000 ; Cholesteryl ester storage disease, 278000 AR
ACSL5 ACSL5, catalyze the formation of acyl-CoA from fatty acid, ATP, and CoA. This reaction is essential in mammalian fatty acid metabolism.
STT3A Congenital disorder of glycosylation, type Iw, 615596 AR
CLN5 Ceroid lipofuscinosis, neuronal, 5, 256731 AR
SORD Sorbitol dehydrogenase deficiency with peripheral neuropathy, 618912 AR
AQP9 By RT-PCR of leukocyte RNA with primers based on conserved regions of aquaporins,
CES1 Drug metabolism, altered, CES1-related, 618057 AD
SLC27A5 The SLC27A5 gene encodes a bile acyl CoA synthetase, which plays a role in the conjugation of taurine and glycine to bile acids
SLC25A17 SLC25A17 is a peroxisomal membrane protein that belongs to the family of mitochondrial solute carriers.
SLC10A7 Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363 AR
GLA Fabry disease, cardiac variant, 301500 ; Fabry disease, 301500 X-linked
ABCD1 Adrenoleukodystrophy, 300100; Adrenomyeloneuropathy, adult, 300100 X-LR
AKR1C1 By screening a human liver expression library with an antibody against rat 3-alpha-HSD,
HPS5 Hermansky-Pudlak syndrome 5, 614074 AR
GPHN Molybdenum cofactor deficiency C, 615501 AR
ACOT2
Acyl-CoA thioesterases, such as ACOT2, are a group of enzymes that hydrolyze CoA esters, such as acyl-CoAs, bile CoAs, and CoA esters
of prostaglandins, to the corresponding free acid and CoA
DECR2 DECR2 is predicted to assist in the degradation of poly-(cis)-unsaturated fatty acids
LCAT Fish-eye disease, 136120 ; Norum disease, 245900 AR
PEX12 Peroxisome biogenesis disorder 3B, 266510; Peroxisome biogenesis disorder 3A (Zellweger614859 AR
ABCG8 Sitosterolemia 1, 210250; {Gallbladder disease 4}, 611465 AR
MCM6 Lactase persistence/nonpersistence, 223100 AD
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 AR
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9. GENE OMIM-phenotype Zyg
ABCB6 Microphthalmia, isolated, with coloboma 7, 614497; [Blood group, Langereis system], 111600 AD
PPARG
{Diabetes, type 2}, 125853 ; Insulin resistance, severe, digenic, 604367 ; Lipodystrophy, familial partial, type 3, 604367 ; [Obesity,
resistance to] ; Carotid intimal medial thickness 1, 609338
Multifactorial,AR,AD
LIAS Hyperglycinemia, lactic acidosis, and seizures, 614462 AR
SRD5A3 Kahrizi syndrome, 612713 ; Congenital disorder of glycosylation, type Iq, 612379 AR
DMGDH Dimethylglycine dehydrogenase deficiency, 605850 AR
SLC34A1
?Fanconi renotubular syndrome 2, 613388 ; Hypercalcemia, infantile, 2, 616963 ; Nephrolithiasis/osteoporosis, hypophosphatemic, 1,
612286
AR,AD
LYRM4 ?Combined oxidative phosphorylation deficiency 19, 615595 AR
SNX10 Osteopetrosis, autosomal recessive 8, 615085 AR
C7orf10 Glutaric aciduria III AR
PSAT1 Neu-Laxova syndrome 2, 616038 ; ?Phosphoserine aminotransferase deficiency, 610992 AR
PHKA1 Muscle glycogenosis, 300559 X-LR
LAMP2 Danon disease, 300257 X-linked dominant
FMO3 Trimethylaminuria, 602079 AR
PDSS1 Coenzyme Q10 deficiency, primary, 2, 614651 AR
CPN1 Carboxypeptidase N deficiency, 212070 AR
BBOX1 Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation.
FGF19
Fibroblast growth factors (FGFs), such as FGF19, play important roles in multiple physiologic functions, including angiogenesis,
mitogenesis, pattern formation, cellular differentiation, metabolic regulation, tissue repair, and oncogenesis
DLAT Pyruvate dehydrogenase E2 deficiency, 245348 AR
SLCO1A2
The organic anion transporter (OATP) of liver mediates the basolateral hepatocellular uptake of numerous cholephilic anions and
steroidal compounds from sinusoidal blood.
FAR2
Wax esters play essential roles in preventing water loss, abrasion, and infection. Wax monoesters are synthesized via reduction of a
fatty acid to a fatty alcohol, followed by transesterification of the fatty alcohol to a fatty acid. The first step is catalyzed by fatty acyl-
CoA reductases
TSFM Combined oxidative phosphorylation deficiency 3, 610505 AR
MGAT2 Congenital disorder of glycosylation, type IIa, 212066 AR
ANPEP
Alanyl aminopeptidase, or aminopeptidase N (EC 3.4.11.2), is located in the small intestinal and renal microvillar membrane, as well as
in other plasma membranes.
COG4 Congenital disorder of glycosylation, type IIj, 613489 ; Saul-Wilson syndrome, 618150 AR
ABCC3
Bile secretion in liver is driven in large part by ATP-binding cassette (ABC)-type proteins that reside in the canalicular membrane and
effect ATP-dependent transport of bile acids, phospholipids, and non-bile acid organic anions.
IDH1 {Glioma, susceptibility to, somatic}, 137800 0
SLC19A3 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2 607483 AR
SLC22A5 Carnitine deficiency, systemic primary, 212140 AR
GLDC Glycine encephalopathy, 605899 AR
AUH 3-methylglutaconic aciduria, type I, 250950 AR
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MTR
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 ; Homocystinuria-megaloblastic anemia, cblG complementation type,
250940
AR
LDHA Glycogen storage disease XI, 612933 AR
HPD Hawkinsinuria, 140350 ; Tyrosinemia, type III, 276710 AD
PYGL Glycogen storage disease VI, 232700 AR
GALK2 GK2 is a highly efficient GalNAc kinase with galactokinase activity when this sugar is present at high concentrations.
HSD3B7 Bile acid synthesis defect, congenital, 1, 607765 AR
APRT Adenine phosphoribosyltransferase deficiency, 614723 AR
SGSH Mucopolysaccharidosis type IIIA (Sanfilippo A 252900 0
SLC25A10 ?Mitochondrial DNA depletion syndrome 19, 618972 AR
ACADL The ACADL gene encodes long-chain acyl-CoA dehydrogenase, an enzyme involved in fatty acid beta-oxidation.
SUMF1 Multiple sulfatase deficiency, 272200 AR
BCHE Butyrylcholinesterase deficiency, 617936 ; {Apnea, postanesthetic, susceptibility to, due to BCHE deficiency}, 617936 AR
PSPH Phosphoserine phosphatase deficiency, 614023 AR
CYP3A4 Vitamin D-dependent rickets, type 3, 619073 AD
BAAT Hypercholanemia, familial, 607748 ; Bile acid conjugation defect 1, 619232 AR
CEL Maturity-onset diabetes of the young, type VIII, 609812 AD
MAGT1
Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 ; Congenital disorder of
glycosylation, type Icc, 301031
X-LR
MAN1C1
Alpha-1,2-mannosidases play an essential role in the maturation of N-glycans to hybrid and complex structures in mammalian cells by
removing the four alpha-1,2-linked mannose residues from Man9GlcNAc2. MAN1C1 is a type II transmembrane calcium-dependent
glycosyl hydrolase found in the Golgi
YARS2 Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 AR
XDH Xanthinuria, type I, 278300 AR
MFF Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 AR
AHCY Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 AR
PRODH {Schizophrenia, susceptibility to, 4}, 600850 ; Hyperprolinemia, type I, 239500 AD
DNAJC19 3-methylglutaconic aciduria, type V, 610198 AR
IDUA Mucopolysaccharidosis Is, 607016 ; Mucopolysaccharidosis Ih/s, 607015 ; Mucopolysaccharidosis Ih, 607014 AR
PEX2 Peroxisome biogenesis disorder 5A 614866; Peroxisome biogenesis disorder 5B, 614867 AR
VLDLR Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 AR
MAN1B1 Rafiq syndrome, 614202 AR
PCSK9 {Low density lipoprotein cholesterol level QTL 1}, 603776 ; Hypercholesterolemia, familial, 3, 603776 AD
COX15 Mitochondrial complex IV deficiency, nuclear type 6, 615119 AR
ACACB The primary species of mammalian acetyl-CoA carboxylase
GATM Cerebral creatine deficiency syndrome 3, 612718 ; Fanconi renotubular syndrome 1, 134600 AR
LONP2
LONP2 is a peroxisomal ATP-dependent serine protease that degrades oxidized proteins and may also function as a peroxisomal
chaperone
SCO1 Mitochondrial complex IV deficiency, nuclear type 4, 619048 AR
ELAC2 {Prostate cancer, hereditary, 2, susceptibility to}, 614731 ; Combined oxidative phosphorylation deficiency 17, 615440 AR
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11. GENE OMIM-phenotype Zyg
SOST Sclerosteosis 1, 269500 ; Craniodiaphyseal dysplasia,AD, 122860 AR
GAA Glycogen storage disease II, 232300 AR
SLC40A1 Hemochromatosis, type 4, 606069 AD
GLYCTK D-glyceric aciduria, 220120 AR
ALAD Porphyria, acute hepatic, 612740 ; {Lead poisoning, susceptibility to}, 612740 AR
PEX14 Peroxisome biogenesis disorder 13A (Zellweger 614887 AR
SFXN4 Combined oxidative phosphorylation deficiency 18, 615578 AR
PAOX
The polyamines spermidine and spermine are assembled by sequential transfer of aminopropyl units onto a core diamine unit,
putrescine. In the polyamine back-conversion pathway, the same aminopropyl units are removed from spermine and spermidine by
sequential acetylation followed by oxidation. PAOX is an FAD-dependent polyamine oxidase
CD63 The melanoma-associated antigen ME491 is expressed strongly during early stages of progression of the tumor
PNP Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 AR
L2HGDH L-2-hydroxyglutaric aciduria, 236792 AR
RSAD1 0 0
GYS1 Glycogen storage disease 0, muscle, 611556 AR
ATG7 Spinocerebellar ataxia, autosomal recessive 31, 619422 AR
ALAS1
catalyzes the condensation of glycine with succinyl-CoA to form delta-aminolevulinic acid. This nuclear-encoded mitochondrial enzyme
is the first and rate-limiting enzyme in the mammalian heme biosynthetic pathway. There are 2 tissue-specific isozymes: a housekeeping
enzyme encoded by the ALAS1 gene and an erythroid tissue-specific enzyme encoded by ALAS2
UROC1 ?Urocanase deficiency, 276880 AR
EHHADH ?Fanconi renotubular syndrome 3, 615605 AD
MOCS2 Molybdenum cofactor deficiency B, 252160 AR
IDS Mucopolysaccharidosis II, 309900 X-LR
SLC27A2
In mammals, oxidation of very long chain fatty acids (VLCFAs) containing more than 22 carbons takes place primarily in peroxisomes.
Very long chain acyl-CoA synthetase
ISYNA1
Myoinositol, the most common naturally occurring form of inositol, is a component of plasma membrane phospholipids and functions
as a cell signaling molecule.
HADHB Trifunctional protein deficiency, 609015 AR
NAGA Schindler disease, type I, 609241 ; Kanzaki disease, 609242 ; Schindler disease, type III, 609241 AR
MMAA Methylmalonic aciduria, vitamin B12-responsive, cblA type, 251100 AR
PXT1 CCDC33 is a putative peroxisomal protein expressed predominantly in testis (
OTC Ornithine transcarbamylase deficiency, 311250 X-linked
TARS2 ?Combined oxidative phosphorylation deficiency 21, 615918 AR
CYP17A1 17,20-lyase deficiency, isolated, 202110 ; 17-alpha-hydroxylase/17,20-lyase deficiency, 202110 AR
GNS Mucopolysaccharidosis type IIID, 252940 AR
NUDT7
NUDT7 is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell
and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules
NPC1 Niemann-Pick disease, type C1, 257220 ; Niemann-Pick disease, type D, 257220 AR
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12. GENE OMIM-phenotype Zyg
MOGS Congenital disorder of glycosylation, type IIb, 606056 AR
SLC10A6 By searching a database for an ortholog of rat Soat, followed by RT-PCR and RACE of an adrenal gland cDNA library
PEX6 Peroxisome biogenesis disorder 4B, 614863; Peroxisome biogenesis disorder 4A (Zellweger614862; Heimler syndrome 2, 616617 AR,AD
PEX10 Peroxisome biogenesis disorder 6A 614870; Peroxisome biogenesis disorder 6B, 614871 AR
SLC16A1
Hyperinsulinemic hypoglycemia, familial, 7, 610021 ; Erythrocyte lactate transporter defect, 245340 ; Monocarboxylate transporter 1
deficiency, 616095
AR,AD
AKR1C4 {46XY sex reversal 8, modifier of}, 614279 AR
SLC22A12 Hypouricemia, renal, 220150 AR
SLC25A29
During periods of fasting or other metabolic stress, long-chain fatty acids are translocated into mitochondria as acylcarnitines and used
as an energy source for mitochondrial beta oxidation. Specialized translocases
NAGLU ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491,; Mucopolysaccharidosis type IIIB (Sanfilippo B 252920 AD,AR
SLC25A12 Developmental and epileptic encephalopathy 39, 612949 AR
ADSL Adenylosuccinase deficiency, 103050 AR
GYG1 ?Glycogen storage disease XV, 613507 ; Polyglucosan body myopathy 2, 616199 AR
PPM1K ?Maple syrup urine disease, mild variant, 615135 0
SLC10A5 SLC10A5 is a membrane protein predominantly expressed in liver and kidney
FH Leiomyomatosis and renal cell cancer, 150800 ; Fumarase deficiency, 606812 AD
ACADSB 2-methylbutyrylglycinuria, 610006 AR
SLC10A2 Bile acid malabsorption, primary, 613291 AR
SLC10A1 Hypercholanemia, familial 2, 619256 AR
DHODH Miller syndrome, 263750 AR
BCKDHA Maple syrup urine disease, type Ia, 248600 AR
FABP1
FABP1, or liver fatty acid-binding protein, is an abundant constituent of cytoplasm that regulates lipid transport and metabolism. It
binds free fatty acids, their CoA derivatives, bilirubin, organic anions, and other small molecules.
MMACHC Methylmalonic aciduria and homocystinuria, cblC type, 277400 AR
UROS Porphyria, congenital erythropoietic, 263700 AR
TPH2 {Unipolar depression, susceptibility to}, 608516 ; {Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 0
UPB1 Beta-ureidopropionase deficiency, 613161 AR
PCCB Propionicacidemia, 606054 AR
SAR1B Chylomicron retention disease, 246700 AR
DDO
is a flavoprotein that catalyzes the oxidative deamination of dicarboxylic D-amino acids to give the corresponding alpha-keto acids and
ammonia. DDO is inactive with D-amino acids that are oxidized by D-amino acid oxidase
LPA [LPA deficiency, congenital], 618807 ; {Coronary artery disease, susceptibility to}, 618807 AD
PTS Hyperphenylalaninemia, BH4-deficient, A, 261640 AR
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 ; Pierson syndrome, 609049 AR
MOCS1 Molybdenum cofactor deficiency A, 252150 AR
ASL Argininosuccinic aciduria, 207900 AR
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13. GENE OMIM-phenotype Zyg
ABP1
Amiloride acts as a diuretic via the closure of epithelial sodium ion channels. Barbry et al. (1990) used phenamil, an analog of amiloride
and a potent blocker of the epithelial sodium channel, to purify the porcine kidney amiloride-binding protein. They then used synthetic
oligonucleotides derived from partial sequences to screen a human kidney cDNA library and isolated the cDNA encoding the human
amiloride-binding protein. The deduced amiloride-binding protein
SLC2A1
Dystonia 9, 601042 ; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 ; Stomatin-deficient cryohydrocytosis with
neurologic defects, 608885 ; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847 ; GLUT1 deficiency syndrome 2, childhood
onset, 612126
AR,AD
PGM1 Congenital disorder of glycosylation, type It, 614921 AR
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type, 614857 AR
TAT Tyrosinemia, type II, 276600 AR
ACSF3 Combined malonic and methylmalonic aciduria, 614265 0
PTRF Lipodystrophy, congenital generalized, type 4 AR
SLC10A4 SLC10A4 expression in brain, placenta, and pancreas, with lower expression in liver and kidney.
MTCH1 On a yeast 2-hybrid screen of a human brain cDNA library for proteins that interact with the C terminus of presenilin-1
PIGO Hyperphosphatasia with mental retardation syndrome 2, 614749 AR
PPT1 Ceroid lipofuscinosis, neuronal, 1, 256730 AR
PSAP
Combined SAP deficiency, 611721 ; Krabbe disease, atypical, 611722 ; Metachromatic leukodystrophy due to SAP-b deficiency, 249900 ;
Gaucher disease, atypical, 610539
AR
HOGA1 Hyperoxaluria, primary, type III, 613616 AR
TPP1 Ceroid lipofuscinosis, neuronal, 2, 204500 ; Spinocerebellar ataxia,AR 7, 609270 AR
AMPD3 [AMP deaminase deficiency, erythrocytic], 612874 AR
GAMT Cerebral creatine deficiency syndrome 2, 612736 AR
CYP27A1 Cerebrotendinous xanthomatosis, 213700 AR
PLA2G6
Parkinson disease 14,AR, 612953 ; Neurodegeneration with brain iron accumulation 2B, 610217 ; Infantile neuroaxonal dystrophy 1,
256600
AR
PAH [Hyperphenylalaninemia, non-PKU mild], 261600 ; Phenylketonuria, 261600 AR
AOC2 catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor.
ACOX1 Mitchell syndrome, 618960 ; Peroxisomal acyl-CoA oxidase deficiency, 264470 AD
PAF1 PAF protein complex that associates with the RNA polymerase II subunit POLR2A
SPR Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 ?Autosomal dominant,AR
D2HGDH D-2-hydroxyglutaric aciduria, 600721 AR
ACOX2 Bile acid synthesis defect, congenital, 6, 617308 AR
PEX11A
The deduced 247-amino acid PEX11-alpha protein shares approximately 20% amino acid identity with yeast PEX11. PEX11-alpha has 2
predicted membrane-spanning domains, 1 at its C terminus and a second located approximately 100 amino acids from its N terminus.
The termini of PEX11-alpha are predicted to extend into the cytoplasm.
NAGS N-acetylglutamate synthase deficiency, 237310 AR
PEX13 Peroxisome biogenesis disorder 11A 614883; Peroxisome biogenesis disorder 11B, 614885 AR
DGUOK
Progressive external ophthalmoplegia with mitochondrial DNA deletions,AR 4, 617070 ; Portal hypertension, noncirrhotic, 617068 ;
Mitochondrial DNA depletion syndrome 3 251880
AR
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14. GENE OMIM-phenotype Zyg
PPARD
organelles that contribute to the oxidation of fatty acids. As members of the nuclear receptor superfamily, PPARs act by controlling
networks of target genes. PPARs can be activated by both dietary fatty acids and their metabolic derivatives in the body, and thus serve
as lipid sensors that, when activated, can markedly redirect metabolism. Whereas PPARA
CTH Cystathioninuria, 219500 AR
COG7 Congenital disorder of glycosylation, type IIe, 608779 AR
GLUL Glutamine deficiency, congenital, 610015 AR
PM20D1
Pm20d1 mRNA was higher in mouse brown adipose tissue compared with other fat depots. Proteomic analysis showed that Pm20d1
was present in blood, and high Pm20d1 mRNA expression was also observed in mouse liver and kidney
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 AR
EARS2 Combined oxidative phosphorylation deficiency 12, 614924 AR
PLEKHM1 ?Osteopetrosis,AR 6, 611497 ; Osteopetrosis,AD 3, 618107 AR
CYB5A Methemoglobinemia and ambiguous genitalia, 250790 AR
ETFB Glutaric acidemia IIB, 231680 AR
SLC4A5
Sodium bicarbonate cotransporters (NBCs) are integral membrane proteins that contribute to intracellular pH regulation and mediate
electroneutral or electrogenic sodium bicarbonate cotransport. Tissue-specific variants of NBC1
AGXT Hyperoxaluria, primary, type 1, 259900 AR
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy 253200 AR
SLC18A1
Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human
neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine
AIFM1
Combined oxidative phosphorylation deficiency 6, 300816 ; Cowchock syndrome, 310490 ; Spondyloepimetaphyseal dysplasia, X-linked,
with hypomyelinating leukodystrophy, 300232; Deafness, X-linked 5, 300614
X-LR
DDOST ?Congenital disorder of glycosylation, type Ir, 614507 AR
C10orf11 Albinism, oculocutaneous, type VII AR
LDLR LDL cholesterol level QTL2, 143890 ; Hypercholesterolemia, familial, 1, 143890 AR,AD
ASS1 Citrullinemia, 215700 AR
DHCR7 Smith-Lemli-Opitz syndrome, 270400 AR
VSIG2
Ctx, a cortical thymocyte marker in frogs, is a member of the immunoglobulin (Ig) superfamily and has features of both antigen-specific
receptors and adhesion molecules.
GLS2
isolated a full-length human glutaminase cDNA, which they designated GA, from ZR-75 breast cancer cells. GA encodes a deduced 602-
amino acid protein with a putative N-terminal mitochondrial import presequence. The GA protein shares 94% and 72% sequence
identity with the rat liver and kidney glutaminase proteins, respectively
PCBD2
bait in a yeast 2-hybrid screen of a human skeletal muscle cDNA library, Lim et al. (2002) identified PCBD2, which they called DCOHM,
encoding a deduced 103-amino acid protein. The DCOHM protein shares 78% sequence identity with DCOH (PCBD1
CPT2
{Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 ; CPT II deficiency, infantile, 600649; CPT II deficiency, lethal
neonatal, 608836; CPT II deficiency, myopathic, stress-induced, 255110
AR,AD
EPHX1
a bifunctional protein expressed in 2 distinct topologic orientations. The type I form plays a central role in hepatic metabolism of
xenobiotics, whereas the type II form is targeted to plasma membrane, where it mediates sodium-dependent transport of bile acids
CA5A Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 AR
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15. GENE OMIM-phenotype Zyg
PECR Chain elongation of fatty acids occurs in endoplasmic reticulum (ER) and mitochondria and is thought to occur in peroxisomes.
HYAL1 ?Mucopolysaccharidosis type IX, 601492 AR
CPOX Coproporphyria, 121300 ; Harderoporphyria, 618892 AR,AD
LEPREL1 Myopia, high, with cataract and vitreoretinal degeneration AR
BLVRA Hyperbiliverdinemia, 614156 AR,AD
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 AR
CTSK Pycnodysostosis, 265800 AR
HPS6 Hermansky-Pudlak syndrome 6, 614075 AR
SUOX Sulfite oxidase deficiency, 272300 AR
TUFM Combined oxidative phosphorylation deficiency 4, 610678 AR
ALDH9A1
family of isozymes that catalyze the oxidation of a broad range of aldehydes and the dehydrogenation of aldehyde metabolites of
compounds such as corticosteroids and biogenic amines. The aldehyde dehydrogenase E3 catalyzes the dehydrogenation of gamma-
aminobutyraldehyde to gamma-aminobutyric acid (GABA)
ANKK1 dentified a novel kinase gene, designated ankyrin repeat and kinase domain containing-1
ABCC11 [Axillary odor, variation in], 117800; [Earwax, wet/dry], 117800; [Colostrum secretion, variation in], 117800 AD
AGTR1 {Hypertension, essential}, 145500 ; Renal tubular dysgenesis, 267430 Multifactorial
ARG1 Argininemia, 207800 AR
PFKM Glycogen storage disease VII, 232800 AR
MMAB Methylmalonic aciduria, vitamin B12-responsive, cblB type, 251110 AR
GCDH Glutaricaciduria, type I, 231670 AR
HPS4 Hermansky-Pudlak syndrome 4, 614073 AR
FIS1 The balance between fission and fusion regulates the morphology of mitochondria.
ALG2 ?Congenital disorder of glycosylation, type Ii, 607906 ; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 AR
B2M ?Amyloidosis, familial visceral, 105200 ; Immunodeficiency 43, 241600 AD
FECH Protoporphyria, erythropoietic, 1, 177000 AR
HPS1 Hermansky-Pudlak syndrome 1, 203300 AR
CTSF Ceroid lipofuscinosis, neuronal, 13 (Kufs type AD
HMBS Porphyria, acute intermittent, nonerythroid variant, 176000 ; Porphyria, acute intermittent, 176000 AD
SOAT2 as sterol O-acyltransferase (SOAT), catalyzes the formation of cholesterol esters from long-chain fatty acyl CoA and cholesterol
G6PC Glycogen storage disease Ia AR
SLC22A1
isolated a cDNA from rat kidney, which they named OCT1 (organic cation transporter), that induced organic cation uptake when
expressed in Xenopus oocytes. On Northern blots, rat OCT1 was expressed as 3 mRNAs of 1.9, 3.4, and 4.8 kb in kidney, liver, intestine,
and colon.
STS Ichthyosis, X-linked, 308100 X-LR
CYP2C19
Proguanil poor metabolizer, 609535 ; Mephenytoin poor metabolizer, 609535; Clopidogrel, impaired responsiveness to, 609535;
Omeprazole poor metabolizer, 609535
AR
PHKG2 Glycogen storage disease IXc, 613027 AR
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SLC46A1 Folate malabsorption, hereditary, 229050 AR
CPT1C ?Spastic paraplegia 73, autosomal dominant, 616282 AD
CTSA Galactosialidosis, 256540 AR
BTD Biotinidase deficiency, 253260 AR
SLC10A3 SLC10A3 clone, which they called P3, from placenta and human teratocarcinoma cell cDNA libraries.
TNFSF11 Osteopetrosis, autosomal recessive 2, 259710 AR
GALNS Mucopolysaccharidosis IVA, 253000 AR
ARSA Metachromatic leukodystrophy, 250100 AR
B4GALT1 Congenital disorder of glycosylation, type IId, 607091 AR
PHGDH Neu-Laxova syndrome 1, 256520 ; Phosphoglycerate dehydrogenase deficiency, 601815 AR
MOGAT2 Dietary fat absorption from the small intestine is facilitated by acyl-CoA:monoacylglycerol transferase
C12orf65 Combined oxidative phosphorylation deficiency 7, Spastic paraplegia 55, autosomal recessive AR
ACOT8
PTE1 is an acyl-CoA thioesterase that shows a preference for medium-length fatty acyl-CoAs. It also interacts directly with the human
immunodeficiency virus (HIV)-1 Nef protein
CLN8 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 ; Ceroid lipofuscinosis, neuronal, 8, 600143 AR
NPC2 Niemann-pick disease, type C2, 607625 AR
CETP [High density lipoprotein cholesterol level QTL 10], 143470 ; Hyperalphalipoproteinemia, 143470 AD
TREX1
Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, 192315 ; Aicardi-Goutieres syndrome 1,
dominant and recessive, 225750; {Systemic lupus erythematosus, susceptibility to}, 152700 ; Chilblain lupus, 610448
AD,AR
SLC44A4 ?Deafness, autosomal dominant 72, 617606 AD
DPYS Dihydropyrimidinuria, 222748 AR
CRAT ?Neurodegeneration with brain iron accumulation 8, 617917 AR
HMGCS2 HMG-CoA synthase-2 deficiency, 605911 AR
MVK Hyper-IgD syndrome, 260920 ; Porokeratosis 3, multiple types, 175900; Mevalonic aciduria, 610377 AD,AR
TNFRSF11A Osteopetrosis,AR 7, 612301 ; {Paget disease of bone 2, early-onset}, 602080; Osteolysis, familial expansile, 174810 AR,AD
AQP7 [Glycerol quantitative trait locus], 614411 AR
MPI Congenital disorder of glycosylation, type Ib, 602579 AR
KCTD11
expressed in the neural fold epithelium of the mouse embryo during gastrulation, and subsequently throughout the ventral neural tube,
the outer layer of the ventricular encephalic neuroepithelium, and in neural crest derivatives, including dorsal root ganglia.
PEPD Prolidase deficiency, 170100 AR
ECH1
Certain hypolipidemic agents ('cholesterol-lowering agents'), e.g., fibrates, and industrial plasticizers are known to activate the
transcription of genes encoding proteins involved in peroxisomal beta-oxidation and to induce peroxisome proliferation in rodent
hepatocytes.
HLCS Holocarboxylase synthetase deficiency, 253270 AR
FABP6 member of a family of intracellular fatty acid, retinoid, and bile acid-binding proteins
ARG2
presented evidence for the existence of 2 arginases. The one found in liver and red cells (ARG1; 608313) is severely deficient in
argininemia
POMT2
Muscular dystrophy-dystroglycanopathy type C, 2, 613158 ; Muscular dystrophy-dystroglycanopathy type B, 2, 613156 ; Muscular
dystrophy-dystroglycanopathy type A, 2, 613150
AR
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17. GENE OMIM-phenotype Zyg
IDH2 D-2-hydroxyglutaric aciduria 2, 613657 0
GTPBP3 Combined oxidative phosphorylation deficiency 23, 616198 AR
REN Renal tubular dysgenesis, 267430 ; [Hyperproreninemia] ; Tubulointerstitial kidney disease,AD, 4, 613092 AR
SLC35C1 Congenital disorder of glycosylation, type IIc, 266265 AR
FAH Tyrosinemia, type I, 276700 AR
MPV17 Charcot-Marie-Tooth disease, axonal, type 2EE, 618400; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type 256810 AR
DDC Aromatic L-amino acid decarboxylase deficiency, 608643 AR
HMGCL HMG-CoA lyase deficiency, 246450 AR
PKLR Adenosine triphosphate, elevated, of erythrocytes, 102900 ; Pyruvate kinase deficiency, 266200 AD
GALK1 Galactokinase deficiency with cataracts, 230200 AR
ADA Adenosine deaminase deficiency, partial, 102700 ; Severe combined immunodeficiency due to ADA deficiency, 102700 Somatic mosaicism,AR
H6PD Cortisone reductase deficiency 1, 604931 AR
MRPS16 Combined oxidative phosphorylation deficiency 2, 610498 AR
CTDSP2 By sequencing genes within a region of chromosome 12 amplified in sarcomas and brain tumors
DHRS4
Short-chain dehydrogenase/reductase enzymes, like DHRS4, are NAD/NADP-dependent oxidoreductases that function in the
breakdown of steroids, retinoids, prostaglandins, and xenobiotics. DHRS2 also has a noncatalytic role in the regulation of the cell cycle
and apoptosis
PMM2 Congenital disorder of glycosylation, type Ia, 212065 AR
ALDOA Glycogen storage disease XII, 611881 AR
MSMB {Prostate cancer, hereditary, 13}, 611928 0
PC Pyruvate carboxylase deficiency, 266150 AR
BPIFA2 0
AKR1D1 Bile acid synthesis defect, congenital, 2, 235555 AR
ALAS2 Anemia, sideroblastic, 1, 300751 ; Protoporphyria, erythropoietic, X-linked, 300752 XLR
PPIB Osteogenesis imperfecta, type IX, 259440 AR
PDP1 Pyruvate dehydrogenase phosphatase deficiency, 608782 AR
FUCA1 Fucosidosis, 230000 AR
PEX5
Peroxisome biogenesis disorder 2B, 202370 ; Peroxisome biogenesis disorder 2A (Zellweger214110; Rhizomelic chondrodysplasia
punctata, type 5, 616716
AR
CTNS
Cystinosis, nephropathic, 219800 ; Cystinosis, ocular nonnephropathic, 219750; Cystinosis, late-onset juvenile or adolescent
nephropathic, 219900
AR
MPDU1 Congenital disorder of glycosylation, type If, 609180 AR
CYB5R3 Methemoglobinemia, type I, 250800 ; Methemoglobinemia, type II, 250800 AR
GK2 uggested that the human glycerol kinase gene family consists of at least 3 expressed loci.
C10orf2
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), Perrault syndrome 5,Progressive external ophthalmoplegia with
mitochondrial DNA deletions, autosomal dominant 3
AR,AD
CPT1A CPT deficiency, hepatic, type IA, 255120 AR
ANKS4B By yeast 2-hybrid analysis and mammalian overexpression studies
FUT2 {Norwalk virus infection, resistance to} ; {Vitamin B12 plasma level QTL1}, 612542 ; [Bombay phenotype, digenic], 616754 AR
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18. GENE OMIM-phenotype Zyg
SLC25A20 Carnitine-acylcarnitine translocase deficiency, 212138 AR
PEX19 Peroxisome biogenesis disorder 12A (Zellweger 614886 AR
CA12 Hyperchlorhidrosis, isolated, 143860 AR
F2RL1
Proteinase-activated receptor-2 (PAR2) is a member of the large family of 7-transmembrane-region receptors that couple to guanine
nucleotide-binding proteins
AARS2 Leukoencephalopathy, progressive, with ovarian failure, 615889; Combined oxidative phosphorylation deficiency 8, 614096 AR
ACAD8 Isobutyryl-CoA dehydrogenase deficiency, 611283 AR
HEXA [Hex A pseudodeficiency], 272800 ; GM2-gangliosidosis, several forms, 272800 ; Tay-Sachs disease, 272800 AR
COQ9 Coenzyme Q10 deficiency, primary, 5, 614654 AR
MCOLN1 Mucolipidosis IV, 252650 AR
OPA3 3-methylglutaconic aciduria, type III, 258501 ; Optic atrophy 3 with cataract, 165300 AR
SLC25A15 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 AR
ACADVL VLCAD deficiency, 201475 AR
RPIA Ribose 5-phosphate isomerase deficiency, 608611 AR
MAT1A
Hypermethioninemia, persistent,AD, due to methionine adenosyltransferase I/III deficiency, 250850 ; Methionine adenosyltransferase
deficiency,AR, 250850
AR,AD
CD320 Methylmalonic aciduria, transient, due to transcobalamin receptor defect, 613646 0
CPT1B The mitochondrial carnitine palmitoyltransferases 0
NEU1 Sialidosis, type II, 256550 ; Sialidosis, type I, 256550 AR
PEX11B Peroxisome biogenesis disorder 14B, 614920 AR
PPARA {Hyperapobetalipoproteinemia, susceptibility to} 0
SLC6A20 Iminoglycinuria, digenic, 242600 ; Hyperglycinuria, 138500 Digenic recessive,AR
SLC6A17 Mental retardation, autosomal recessive 48, 616269 AR
HEBP1 is a cytoplasmic tetrapyrrole-binding protein
NDUFS2 Mitochondrial complex I deficiency, nuclear type 6, 618228 AR
PXMP4
Western blot analysis of highly purified rat liver peroxisomal membranes detected Pmp24 at an apparent molecular mass of 24 kD.
Database analysis revealed close orthologs of PMP24 in Caenorhabditis elegans and Neurospora crassa
ALDH1B1 The 2 aldehyde dehydrogenase isozymes that play a major role in ethanol detoxification, ALDH1
APOC3 Apolipoprotein C-III deficiency, 614028 0
PIPOX PIPOX encodes pipecolic acid oxidase, an enzyme that degrades L-pipecolic acid and sarcosine in peroxisomes
BCMO1 ?Hypercarotenemia and vitamin A deficiency, autosomal dominant AD
GPD1 Hypertriglyceridemia, transient infantile, 614480 AR
ALG3 Congenital disorder of glycosylation, type Id, 601110 AR
PEX11G
Northern blot analysis of mouse tissues detected tissue-specific expression, with high levels in liver and much lower levels in other
tissues. Pex11g expression was below the level of detection in mouse fibroblasts
CLDN19 Hypomagnesemia 5, renal, with ocular involvement, 248190 AR
ALG12 Congenital disorder of glycosylation, type Ig, 607143 AR
SLC36A2 Iminoglycinuria, digenic, 242600 ; Hyperglycinuria, 138500 Digenic recessive,AR
APOA2 Apolipoprotein A-II deficiency ; {Hypercholesterolemia, familial, modifier of}, 143890 AR,AD
PNPO Pyridoxamine 5'-phosphate oxidase deficiency, 610090 AR
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19. GENE OMIM-phenotype Zyg
HSD17B10 HSD10 mitochondrial disease, 300438 X-linked dominant
APOC2 Hyperlipoproteinemia, type Ib, 207750 AR
BCKDK Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 0
GM2A GM2-gangliosidosis, AB variant, 272750 AR
CYP11B2
Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 ; Aldosterone to renin ratio raised ; {Low renin hypertension,
susceptibility to} ; Hypoaldosteronism, congenital, due to CMO II deficiency, 610600
AR
ACAA1
They reported that there are 2 peroxisomal thiolase genes in rat, but only 1 in human. Sequence analysis revealed that the deduced 424-
amino acid human protein shares 87% sequence identity with rat peroxisomal thiolase.
SLC2A9 {Uric acid concentration, serum, QTL 2}, 612076 ; Hypouricemia, renal, 2, 612076 AR,AD
ANGPTL2
NGPTL2 transcript in heart, small intestine, spleen, and stomach. Both transcripts were expressed less abundantly in colon, ovary,
adrenal gland, skeletal muscle, and prostate. In situ hybridization of rat embryo showed abundant expression of Angptl2 transcripts in
the walls of the aortic trunk, pulmonary trunk, and descending aorta, and expression in the tongue, abdominal muscles, and back
muscles
NR0B1 Adrenal hypoplasia, congenital, 300200 ; 46XY sex reversal 2, dosage-sensitive, 300018 X-LR
PMVK Porokeratosis 1, multiple types, 175800 AD
C2orf83 0
DAO
one of the principal and characteristic flavoenzymes of peroxisomes found in the liver, kidney, and brain of many mammalian species.
DAO has a flavin adenine dinucleotide
SLC29A4
A key step that determines the intensity and duration of monoamine neural signaling is the rate of reuptake of released monoamines.
Plasma membrane transporters, such as SLC29A4, are responsible for the reuptake of monoamines into presynaptic neurons
FOLR3 elevated in a variety of malignant tissues compared to their normal counterparts.
ID1
ID proteins conID proteins contain a helix-loop-helix (HLH) motif and regulate tissue-specific transcription within several cell lineages.
They do not bind DNA directly, but inhibit lineage commitment by binding basic helix-loop-helix (bHLH) transcription factors through
their HLH motif. ID proteins contribute to cell growth, senescence, differentiation, and angiogenesis.
tion factors through their HLH motif. ID proteins contribute to cell growth, senescence, differentiation, and angiogenesis.
POMGNT1
Muscular dystrophy-dystroglycanopathy type B, 3, 613151 ; Muscular dystrophy-dystroglycanopathy type C, 3, 613157 ; Retinitis
pigmentosa 76, 617123 ; Muscular dystrophy-dystroglycanopathy type A, 3, 253280
AR
IMPA2 Inositol phosphatases play a crucial role in the phosphatidylinositol signaling pathway
HSD3B1
3-Beta-hydroxysteroid dehydrogenase catalyzes the oxidation and isomerization of delta-5-3-beta-hydroxysteroid precursors into delta-
4-ketosteroids, thus leading to the formation of all classes of steroid hormones.
IGFALS Acid-labile subunit, deficiency of, 615961 AR
PPOX Porphyria variegata, 176200 AD
UROD Porphyria, hepatoerythropoietic, 176100 ; Porphyria cutanea tarda, 176100 AR,AD
ADCK3 oenzyme Q10 deficiency, primary, 4 AR
PPAPDC2
By database analysis using peptide sequences purified from human neutrophil extracts with presqualene diphosphate (PSDP)
phosphatase activity, followed by RT-PCR of total RNA from human neutrophils
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20. GENE OMIM-phenotype Zyg
GBA
{Lewy body dementia, susceptibility to}, 127750 ; Gaucher disease, type II, 230900 ; Gaucher disease, type IIIC, 231005 ; Gaucher
disease, type III, 231000 ; Gaucher disease, type I, 230800 ; Gaucher disease, perinatal lethal, 608013 ; {Parkinson disease, late-onset,
susceptibility to}, 168600
AR,AD, Multifactorial
C10orf10
Endometrial stromal cells (ESC) undergo decidualization in response to progesterone. During pregnancy, endometrial mass continues to
increase and forms the maternally derived component of the placenta. Remodeling of the endometrium is critical for implantation of
the developing embryo.
FOLR4
IZUMO1R shares significant similarity with folate receptors, but it does not bind folate due to critical amino acid changes. FOLR4 is
expressed on the oocyte membrane, where it functions at the initial recognition step of oocyte fertilization by binding the sperm cell-
surface protein IZUMO1
DOLK Congenital disorder of glycosylation, type Im, 610768 AR
DPM3 ?Muscular dystrophy-dystroglycanopathy type B, 15, 618992 ; Muscular dystrophy-dystroglycanopathy type C, 15, 612937 AR
HFE
{Porphyria variegata, susceptibility to}, 176200 ; {Microvascular complications of diabetes 7}, 612635 ; {Alzheimer disease, susceptibility
to}, 104300 ; [Transferrin serum level QTL2], 614193
AD,AR
APOA5 Hyperchylomicronemia, late-onset, 144650 ; {Hypertriglyceridemia, susceptibility to}, 145750 AD
FOLR1 Neurodegeneration due to cerebral folate transport deficiency, 613068 AR
PCBD1 Hyperphenylalaninemia, BH4-deficient, D, 264070 AR
GPBAR1 In a database search using sequences of known G protein-coupled receptors (GPCRs) as query,
FUT6 [Fucosyltransferase 6 deficiency], 613852 0
AGT Renal tubular dysgenesis, 267430 ; {Preeclampsia, susceptibility to} ; {Hypertension, essential, susceptibility to}, 145500 AR, Multifactorial
PGAM2 Glycogen storage disease X, 261670 AR
QDPR Hyperphenylalaninemia, BH4-deficient, C, 261630 AR
BLOC1S3 Hermansky-Pudlak syndrome 8, 614077 AR
AMT Glycine encephalopathy, 605899 AR
PEX26 Peroxisome biogenesis disorder 7B, 614873; Peroxisome biogenesis disorder 7A (Zellweger614872 AR
DHRS7B
DHRS7B is a member of the large short-chain dehydrogenase/reductase (SDR) family of enzymes that metabolize steroid hormones,
prostaglandins, retinoids, lipids, and xenobiotics
NDUFAF6 Mitochondrial complex I deficiency, nuclear type 17, 618239 ; Fanconi renotubular syndrome 5, 618913 AR
SC5D Lathosterolosis, 607330 AR
SLC52A1 Riboflavin deficiency, 615026 AD
SLC51B ?Bile acid malabsorption, primary, 2 AR
SLC51A ?Cholestasis, progressive familial intrahepatic, 6 AR
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