Diseases of metabolism Gene Set

Dataset Reactome Pathways 2024
Category structural or functional annotations
Type pathway
External Link https://reactome.org/PathwayBrowser/#/R-HSA-5668914
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Genes

262 proteins participating in the Diseases of metabolism pathway from the Reactome Pathways 2024 dataset.

Symbol Name
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ACACA acetyl-CoA carboxylase alpha
ACAN aggrecan
ACAT1 acetyl-CoA acetyltransferase 1
ACY1 aminoacylase 1
ADA adenosine deaminase
ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif, 12
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif, 14
ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif, 15
ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif, 16
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18
ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif, 19
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20
ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif, 3
ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif, 4
ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif, 5
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6
ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif, 7
ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif, 8
ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif, 9
ADAMTSL1 ADAMTS-like 1
ADAMTSL2 ADAMTS-like 2
ADAMTSL3 ADAMTS-like 3
ADAMTSL4 ADAMTS-like 4
ADAMTSL5 ADAMTS-like 5
AGRN agrin
AHCY adenosylhomocysteinase
ALDOB aldolase B, fructose-bisphosphate
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALG12 ALG12, alpha-1,6-mannosyltransferase
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALG14 ALG14, UDP-N-acetylglucosaminyltransferase subunit
ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALG6 ALG6, alpha-1,3-glucosyltransferase
ALG8 ALG8, alpha-1,3-glucosyltransferase
ALG9 ALG9, alpha-1,2-mannosyltransferase
AMN amnion associated transmembrane protein
APRT adenine phosphoribosyltransferase
ARSB arylsulfatase B
AUH AU RNA binding protein/enoyl-CoA hydratase
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
B3GLCT beta 3-glucosyltransferase
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
B4GAT1 beta-1,4-glucuronyltransferase 1
BCAN brevican
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide
BCKDK branched chain ketoacid dehydrogenase kinase
BGN biglycan
BTD biotinidase
C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
C1GALT1C1 C1GALT1-specific chaperone 1
CBLIF cobalamin binding intrinsic factor
CD320 CD320 molecule
CFP complement factor properdin
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
CHSY1 chondroitin sulfate synthase 1
CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
CSF2RB colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
CSPG4 chondroitin sulfate proteoglycan 4
CSPG5 chondroitin sulfate proteoglycan 5 (neuroglycan C)
CTSA cathepsin A
CUBN cubilin (intrinsic factor-cobalamin receptor)
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DBT dihydrolipoamide branched chain transacylase E2
DCN decorin
DCXR dicarbonyl/L-xylulose reductase
DHDDS dehydrodolichyl diphosphate synthase
DLD dihydrolipoamide dehydrogenase
DOLK dolichol kinase
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3
ECHS1 enoyl CoA hydratase, short chain, 1, mitochondrial
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FDX1 ferredoxin 1
FDX2 ferredoxin 2
FDXR ferredoxin reductase
FMO3 flavin containing monooxygenase 3
FMOD fibromodulin
G6PC1 glucose-6-phosphatase catalytic subunit 1
G6PC3 glucose 6 phosphatase, catalytic, 3
GAA glucosidase, alpha; acid
GALE UDP-galactose-4-epimerase
GALK1 galactokinase 1
GALNS galactosamine (N-acetyl)-6-sulfatase
GALNT12 polypeptide N-acetylgalactosaminyltransferase 12
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GALT galactose-1-phosphate uridylyltransferase
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCLC glutamate-cysteine ligase, catalytic subunit
GCLM glutamate-cysteine ligase, modifier subunit
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GGT1 gamma-glutamyltransferase 1
GLB1 galactosidase, beta 1
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNS glucosamine (N-acetyl)-6-sulfatase
GPC1 glypican 1
GPC2 glypican 2
GPC3 glypican 3
GPC4 glypican 4
GPC5 glypican 5
GPC6 glypican 6
GSS glutathione synthetase
GUSB glucuronidase, beta
GYG1 glycogenin 1
GYG2 glycogenin 2
GYS1 glycogen synthase 1 (muscle)
GYS2 glycogen synthase 2 (liver)
HEXA hexosaminidase A (alpha polypeptide)
HEXB hexosaminidase B (beta polypeptide)
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HIBCH 3-hydroxyisobutyryl-CoA hydrolase
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSPG2 heparan sulfate proteoglycan 2
HYAL1 hyaluronoglucosaminidase 1
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IVD isovaleryl-CoA dehydrogenase
KERA keratocan
KHK ketohexokinase (fructokinase)
LARGE1 LARGE xylosyl- and glucuronyltransferase 1
LCT lactase
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LMBRD1 LMBR1 domain containing 1
LUM lumican
MAN1B1 mannosidase, alpha, class 1B, member 1
MAOA monoamine oxidase A
MAT1A methionine adenosyltransferase I, alpha
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MMUT methylmalonyl-CoA mutase
MOGS mannosyl-oligosaccharide glucosidase
MPDU1 mannose-P-dolichol utilization defect 1
MPI mannose phosphate isomerase
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MUC1 mucin 1, cell surface associated
MUC12 mucin 12, cell surface associated
MUC13 mucin 13, cell surface associated
MUC15 mucin 15, cell surface associated
MUC16 mucin 16, cell surface associated
MUC17 mucin 17, cell surface associated
MUC19 mucin 19, oligomeric
MUC2 mucin 2, oligomeric mucus/gel-forming
MUC20 mucin 20, cell surface associated
MUC21 mucin 21, cell surface associated
MUC3A mucin 3A, cell surface associated
MUC3B mucin 3B, cell surface associated
MUC4 mucin 4, cell surface associated
MUC5AC mucin 5AC, oligomeric mucus/gel-forming
MUC5B mucin 5B, oligomeric mucus/gel-forming
MUC6 mucin 6, oligomeric mucus/gel-forming
MUC7 mucin 7, secreted
MUCL1 mucin-like 1
NAGLU N-acetylglucosaminidase, alpha
NCAN neurocan
NEU1 sialidase 1 (lysosomal sialidase)
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NOTCH1 notch 1
NOTCH2 notch 2
NOTCH3 notch 3
NOTCH4 notch 4
NUS1 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)
OGN osteoglycin
OMD osteomodulin
OPLAH 5-oxoprolinase (ATP-hydrolysing)
PAH phenylalanine hydroxylase
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PC pyruvate carboxylase
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PGM1 phosphoglucomutase 1
PMM2 phosphomannomutase 2
PNP purine nucleoside phosphorylase
POMC proopiomelanocortin
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PPM1K protein phosphatase, Mg2+/Mn2+ dependent, 1K
PPP1R3C protein phosphatase 1, regulatory subunit 3C
PRELP proline/arginine-rich end leucine-rich repeat protein
RFT1 RFT1 homolog (S. cerevisiae)
RPIA ribose 5-phosphate isomerase A
RPS27A ribosomal protein S27a
SBSPON somatomedin B and thrombospondin, type 1 domain containing
SDC1 syndecan 1
SDC2 syndecan 2
SDC3 syndecan 3
SDC4 syndecan 4
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SEMA5B sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B
SFTPA1 surfactant protein A1
SFTPA2 surfactant protein A2
SFTPB surfactant protein B
SFTPC surfactant protein C
SFTPD surfactant protein D
SGSH N-sulfoglucosamine sulfohydrolase
SI sucrase-isomaltase (alpha-glucosidase)
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SPON1 spondin 1, extracellular matrix protein
SPON2 spondin 2, extracellular matrix protein
SRD5A3 steroid 5 alpha-reductase 3
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
TALDO1 transaldolase 1
TBXAS1 thromboxane A synthase 1 (platelet)
TCN2 transcobalamin II
THBS1 thrombospondin 1
THBS2 thrombospondin 2
THSD1 thrombospondin, type I, domain containing 1
THSD4 thrombospondin, type I, domain containing 4
THSD7A thrombospondin, type I, domain containing 7A
THSD7B thrombospondin, type I, domain containing 7B
TPMT thiopurine S-methyltransferase
UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1
UBB ubiquitin B
UBC ubiquitin C
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UGT1A4 UDP glucuronosyltransferase 1 family, polypeptide A4
VCAN versican