Entrez 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].
UniProt Summary: Sulfurates the molybdenum cofactor. Sulfation of molybdenum is essential for xanthine dehydrogenase (XDH) and aldehyde oxidase (ADO) enzymes in which molybdenum cofactor is liganded by 1 oxygen and 1 sulfur atom in active form. In vitro, the C-terminal domain is able to reduce N-hydroxylated prodrugs, such as benzamidoxime. {ECO:0000255|HAMAP-Rule:MF_03050, ECO:0000269|PubMed:16973608}.
Pfam DomainsGO Terms
Pfam Domains
MOSC N
Aminotran 5
MOSC
GO Terms
molybdenum cofactor sulfurtransferase activity
Mo-molybdopterin cofactor sulfurase activity
molybdenum ion binding
Mo-molybdopterin cofactor metabolic process
Mo-molybdopterin cofactor biosynthetic process
molybdopterin cofactor metabolic process
prosthetic group metabolic process
molybdopterin cofactor biosynthetic process
lyase activity
pyridoxal phosphate binding
coenzyme biosynthetic process
cofactor biosynthetic process
coenzyme metabolic process
cofactor metabolic process
cellular component
organophosphate biosynthetic process
organophosphate metabolic process
heterocycle biosynthetic process
organic cyclic compound biosynthetic process
organonitrogen compound biosynthetic process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)