Defective HLCS causes multiple carboxylase deficiency Gene Set

Dataset Reactome Pathways
Category structural or functional annotations
Type pathway
External Link http://www.reactome.org/PathwayBrowser/#/R-HSA-3371599
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Genes

87 proteins participating in the Defective HLCS causes multiple carboxylase deficiency pathway from the Reactome Pathways dataset.

Symbol Name
AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ACACA acetyl-CoA carboxylase alpha
ACACB acetyl-CoA carboxylase beta
ACP5 acid phosphatase 5, tartrate resistant
AMN amnion associated transmembrane protein
AOX1 aldehyde oxidase 1
BTD biotinidase
CD320 CD320 molecule
COASY CoA synthase
CTRB1 chymotrypsinogen B1
CTRB2 chymotrypsinogen B2
CUBN cubilin (intrinsic factor-cobalamin receptor)
CYB5A cytochrome b5 type A (microsomal)
CYB5R3 cytochrome b5 reductase 3
CYP8B1 cytochrome P450, family 8, subfamily B, polypeptide 1
DHFR dihydrofolate reductase
DHFRL1 dihydrofolate reductase-like 1
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
FASN fatty acid synthase
FLAD1 flavin adenine dinucleotide synthetase 1
FPGS folylpolyglutamate synthase
GIF gastric intrinsic factor (vitamin B synthesis)
GPHN gephyrin
GSTO1 glutathione S-transferase omega 1
GSTO2 glutathione S-transferase omega 2
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
LMBRD1 LMBR1 domain containing 1
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
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
MOCOS molybdenum cofactor sulfurase
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MOCS3 molybdenum cofactor synthesis 3
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MUT methylmalonyl CoA mutase
NADK NAD kinase
NADSYN1 NAD synthetase 1
NAMPT nicotinamide phosphoribosyltransferase
NAPRT nicotinate phosphoribosyltransferase
NFS1 NFS1 cysteine desulfurase
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NMNAT2 nicotinamide nucleotide adenylyltransferase 2
NMNAT3 nicotinamide nucleotide adenylyltransferase 3
PANK1 pantothenate kinase 1
PANK2 pantothenate kinase 2
PANK3 pantothenate kinase 3
PANK4 pantothenate kinase 4
PC pyruvate carboxylase
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PDXK pyridoxal (pyridoxine, vitamin B6) kinase
PDZD11 PDZ domain containing 11
PNPO pyridoxamine 5'-phosphate oxidase
PPCDC phosphopantothenoylcysteine decarboxylase
PPCS phosphopantothenoylcysteine synthetase
PRSS1 protease, serine, 1 (trypsin 1)
PRSS3 protease, serine, 3
PTGIS prostaglandin I2 (prostacyclin) synthase
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
QPRT quinolinate phosphoribosyltransferase
RFK riboflavin kinase
SHMT1 serine hydroxymethyltransferase 1 (soluble)
SLC19A1 solute carrier family 19 (folate transporter), member 1
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC23A1 solute carrier family 23 (ascorbic acid transporter), member 1
SLC23A2 solute carrier family 23 (ascorbic acid transporter), member 2
SLC25A16 solute carrier family 25 (mitochondrial carrier), member 16
SLC25A32 solute carrier family 25 (mitochondrial folate carrier), member 32
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC2A3 solute carrier family 2 (facilitated glucose transporter), member 3
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC5A6 solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6
TCN1 transcobalamin I (vitamin B12 binding protein, R binder family)
TCN2 transcobalamin II
THTPA thiamine triphosphatase
TPK1 thiamin pyrophosphokinase 1