MOCOS
Chr 18ARmolybdenum cofactor sulfurase
Also known as: HMCS, MCS, MOS
The protein sulfurates the molybdenum cofactor, which is essential for the activity of xanthine dehydrogenase and aldehyde oxidase enzymes involved in purine metabolism. Biallelic mutations cause autosomal recessive xanthinuria type II, a metabolic disorder characterized by decreased uric acid levels, elevated xanthine and hypoxanthine in serum and urine, xanthine kidney stones, and myositis from tissue xanthine deposition. The gene shows very low constraint against loss-of-function variants, consistent with the recessive inheritance pattern.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MOCOS · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools