| Symbol |
Name |
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ACADM
|
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
|
|
ALDOB
|
aldolase B, fructose-bisphosphate
|
|
ASL
|
argininosuccinate lyase
|
|
ASS1
|
argininosuccinate synthase 1
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
BCKDHA
|
branched chain keto acid dehydrogenase E1, alpha polypeptide
|
|
BCKDHB
|
branched chain keto acid dehydrogenase E1, beta polypeptide
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CPS1
|
carbamoyl-phosphate synthase 1, mitochondrial
|
|
CPT1A
|
carnitine palmitoyltransferase 1A (liver)
|
|
DBT
|
dihydrolipoamide branched chain transacylase E2
|
|
ETFA
|
electron-transfer-flavoprotein, alpha polypeptide
|
|
ETFB
|
electron-transfer-flavoprotein, beta polypeptide
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
FBP1
|
fructose-1,6-bisphosphatase 1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GK
|
glycerol kinase
|
|
GLUD1
|
glutamate dehydrogenase 1
|
|
HADH
|
hydroxyacyl-CoA dehydrogenase
|
|
HLCS
|
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
|
|
HMGCL
|
3-hydroxymethyl-3-methylglutaryl-CoA lyase
|
|
INSR
|
insulin receptor
|
|
IVD
|
isovaleryl-CoA dehydrogenase
|
|
MC2R
|
melanocortin 2 receptor (adrenocorticotropic hormone)
|
|
MCCC1
|
methylcrotonoyl-CoA carboxylase 1 (alpha)
|
|
MMAA
|
methylmalonic aciduria (cobalamin deficiency) cblA type
|
|
MMAB
|
methylmalonic aciduria (cobalamin deficiency) cblB type
|
|
MUT
|
methylmalonyl CoA mutase
|
|
NAGS
|
N-acetylglutamate synthase
|
|
NDUFA1
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
|
|
NDUFA11
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
|
|
NDUFAF1
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NDUFAF3
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
|
|
NDUFAF4
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
|
|
NDUFAF5
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
|
|
NDUFB3
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
|
|
NDUFB9
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
|
|
NDUFS1
|
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
|
|
NDUFS2
|
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
|
|
NDUFS3
|
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
|
|
NDUFS4
|
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
|
|
NDUFS6
|
NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
|
|
NDUFV1
|
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
|
|
NDUFV2
|
NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
|
|
NUBPL
|
nucleotide binding protein-like
|
|
OTC
|
ornithine carbamoyltransferase
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
RANBP2
|
RAN binding protein 2
|
|
SLC16A1
|
solute carrier family 16 (monocarboxylate transporter), member 1
|
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
|
SLC22A5
|
solute carrier family 22 (organic cation/carnitine transporter), member 5
|
|
SLC25A13
|
solute carrier family 25 (aspartate/glutamate carrier), member 13
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
SLC25A20
|
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
|
