Gene: MOCOS

Alternate names for this Gene: HMCS|MCS|MOS

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.

Gene is located in Chromosome: 18

Location in Chromosome : 18q12.2

Description of this Gene: molybdenum cofactor sulfurase

Type of Gene: protein-coding

rs577279030 in MOCOS gene and Xanthinuria, Type II PMID 11302742 2001 Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II.

PMID 17368066 2007 Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria.

PMID 14624414 2003 Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II.

rs190343823 in MOCOS gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.