Protein Name molybdenum cofactor sulfurase
Organism Homo sapiens
Gene ID 55034
Gene Symbol

MOCOS

UniProt Q96EN8 (MOCOS_HUMAN)
Relationships Total Number of functionally related compound(s) : 27
Total Number of Articles : 23
Description

molybdenum cofactor sulfurase

Gene 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]

synonyms
  • molybdenum cofactor sulfurase
  • human molybdenum cofactor sulfurase
  • HMCS
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Properties