abnormal enzyme/coenzyme activity Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme. (Human Phenotype Ontology, HP_0012379)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005584
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Genes

162 gene mutations causing the abnormal enzyme/coenzyme activity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
A2M alpha-2-macroglobulin
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABHD12 abhydrolase domain containing 12
ABHD5 abhydrolase domain containing 5
ACADL acyl-CoA dehydrogenase, long chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACE angiotensin I converting enzyme
ACOT13 acyl-CoA thioesterase 13
ADCY1 adenylate cyclase 1 (brain)
ADCY5 adenylate cyclase 5
ADCY8 adenylate cyclase 8 (brain)
ADIPOR1 adiponectin receptor 1
AGTR1 angiotensin II receptor, type 1
AHR aryl hydrocarbon receptor
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
ANGPTL3 angiopoietin-like 3
ANGPTL4 angiopoietin-like 4
APOE apolipoprotein E
ASL argininosuccinate lyase
ASS1 argininosuccinate synthase 1
ATOX1 antioxidant 1 copper chaperone
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BCL3 B-cell CLL/lymphoma 3
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CAT catalase
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCS copper chaperone for superoxide dismutase
CD38 CD38 molecule
CD8B CD8b molecule
CDC25A cell division cycle 25A
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)
CSPG4 chondroitin sulfate proteoglycan 4
CTSC cathepsin C
CYLD cylindromatosis (turban tumor syndrome)
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP4F12 cytochrome P450, family 4, subfamily F, polypeptide 12
DDAH1 dimethylarginine dimethylaminohydrolase 1
DGKD diacylglycerol kinase, delta 130kDa
DHCR7 7-dehydrocholesterol reductase
DLL1 delta-like 1 (Drosophila)
DRD3 dopamine receptor D3
DSEL dermatan sulfate epimerase-like
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
ETHE1 ethylmalonic encephalopathy 1
EXOC6 exocyst complex component 6
FAS Fas cell surface death receptor
FGF10 fibroblast growth factor 10
FKTN fukutin
FSHR follicle stimulating hormone receptor
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GALC galactosylceramidase
GAPDH glyceraldehyde-3-phosphate dehydrogenase
GBA glucosidase, beta, acid
GBA2 glucosidase, beta (bile acid) 2
GCK glucokinase (hexokinase 4)
GCKR glucokinase (hexokinase 4) regulator
GDE1 glycerophosphodiester phosphodiesterase 1
GLRX2 glutaredoxin 2
GNAS GNAS complex locus
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GPC3 glypican 3
GPD1 glycerol-3-phosphate dehydrogenase 1 (soluble)
GPI glucose-6-phosphate isomerase
GPX1 glutathione peroxidase 1
GPX3 glutathione peroxidase 3
GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HCK HCK proto-oncogene, Src family tyrosine kinase
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
IFNAR1 interferon (alpha, beta and omega) receptor 1
IL4 interleukin 4
IL9 interleukin 9
JAK1 Janus kinase 1
JAK2 Janus kinase 2
KLF15 Kruppel-like factor 15
KMO kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)
LARGE like-glycosyltransferase
LDHA lactate dehydrogenase A
LIPE lipase, hormone-sensitive
LMF1 lipase maturation factor 1
LOX lysyl oxidase
LPIN1 lipin 1
LRP2 low density lipoprotein receptor-related protein 2
M6PR mannose-6-phosphate receptor (cation dependent)
MAP3K12 mitogen-activated protein kinase kinase kinase 12
MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5
MAPK8 mitogen-activated protein kinase 8
MAPK9 mitogen-activated protein kinase 9
MDH1 malate dehydrogenase 1, NAD (soluble)
ME1 malic enzyme 1, NADP(+)-dependent, cytosolic
MGAM maltase-glucoamylase
MIR144 microRNA 144
MIR451A microRNA 451a
MOCS1 molybdenum cofactor synthesis 1
MTHFS 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NCF1 neutrophil cytosolic factor 1
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEU1 sialidase 1 (lysosomal sialidase)
NF1 neurofibromin 1
NOS2 nitric oxide synthase 2, inducible
NPPA natriuretic peptide A
NQO1 NAD(P)H dehydrogenase, quinone 1
NQO2 NAD(P)H dehydrogenase, quinone 2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR3C2 nuclear receptor subfamily 3, group C, member 2
OMP olfactory marker protein
OTC ornithine carbamoyltransferase
PANK1 pantothenate kinase 1
PDE10A phosphodiesterase 10A
PDE8A phosphodiesterase 8A
PEX7 peroxisomal biogenesis factor 7
PISD phosphatidylserine decarboxylase
PKLR pyruvate kinase, liver and RBC
PNP purine nucleoside phosphorylase
PNPLA2 patatin-like phospholipase domain containing 2
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
PON1 paraoxonase 1
PON2 paraoxonase 2
PPME1 protein phosphatase methylesterase 1
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PPP1R3C protein phosphatase 1, regulatory subunit 3C
PRKCA protein kinase C, alpha
PROP1 PROP paired-like homeobox 1
PSAP prosaposin
PTGER1 prostaglandin E receptor 1 (subtype EP1), 42kDa
PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa
RET ret proto-oncogene
RGN regucalcin
SERPINB9 serpin peptidase inhibitor, clade B (ovalbumin), member 9
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
SURF1 surfeit 1
THBD thrombomodulin
THRA thyroid hormone receptor, alpha
TIMP2 TIMP metallopeptidase inhibitor 2
TMBIM1 transmembrane BAX inhibitor motif containing 1
TNFRSF21 tumor necrosis factor receptor superfamily, member 21
TPI1 triosephosphate isomerase 1
TPO thyroid peroxidase
UPP1 uridine phosphorylase 1
UROS uroporphyrinogen III synthase
UTS2 urotensin 2
VAMP8 vesicle-associated membrane protein 8
VAV2 vav 2 guanine nucleotide exchange factor
VAV3 vav 3 guanine nucleotide exchange factor
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta