MOCOS
Summary: This gene encodes an enzyme that sulfurates the molybdenum cofactor which is required for activation of the xanthine dehydrogenase (XDH) and aldehyde oxidase (AO) enzymes. XDH catalyzes the conversion of hypoxanthine to uric acid via xanthine, as well as the conversion of allopurinol to oxypurinol, and pyrazinamide to 5-hydroxy pyrazinamide. Mutations in this gene cause the metabolic disorder classical xanthinuria type II which is characterized by the loss of XDH/XO and AO enzyme activity, decreased levels of uric acid in the urine, increased levels of xanthine and hypoxanthine in the serum and urine, formation of xanthine stones in the urinary tract, and myositis due to tissue deposition of xanthine. [provided by RefSeq, Apr 2017].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:613274 Ensembl IDEnsembl:ENSG00000075643 HGNC IDHGNC:HGNC:18234 PHARMGKB IDPA134964534 Map Location18q12.2 | |||||
GO terms in MOCOS
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | ND | GO:0005575 | cellular_component |
| CC | TAS | GO:0005829 | cytosol |
| BP | IEA | GO:0006777 | Mo-molybdopterin cofactor biosynthetic process |
| BP | TAS | GO:0032324 | molybdopterin cofactor biosynthetic process |
| BP | IMP | GO:0043545 | molybdopterin cofactor metabolic process |
| MF | IPI | GO:0005515 | protein binding |
Gene expression in normal tissue: MOCOS
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MOCOS
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-196849 | Metabolism of water-soluble vitamins and cofactors |
| reactome | R-HSA-196854 | Metabolism of vitamins and cofactors |
| reactome | R-HSA-947581 | Molybdenum cofactor biosynthesis |
| humancyc | PWY-5963 | thio-molybdenum cofactor biosynthesis |
| kegg | hsa00790 | Folate biosynthesis - Homo sapiens (human) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MOCOS
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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