MOCOS Chromosome 18
Molybdenum cofactor sulfurase
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What This Gene Does
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]
Associated Conditions (3)
Xanthinuria type II
MOCOS-related disorder
Autism spectrum disorder
Key Variants
RS1156588840
Conflicting classifications of pathogenicity
Xanthinuria type II, Xanthinuria type II
Health Risk
RS139002197
Conflicting classifications of pathogenicity
Xanthinuria type II, MOCOS-related disorder, Xanthinuria type II
Health Risk
RS144081367
Conflicting classifications of pathogenicity
Xanthinuria type II, Xanthinuria type II
Health Risk
RS144644128
Conflicting classifications of pathogenicity
Xanthinuria type II, Xanthinuria type II
Health Risk
RS200725272
Conflicting classifications of pathogenicity
Xanthinuria type II, Xanthinuria type II
Health Risk
RS2091346076
Conflicting classifications of pathogenicity
Xanthinuria type II, Xanthinuria type II
Health Risk
RS747252798
Conflicting classifications of pathogenicity
Xanthinuria type II, Xanthinuria type II
Health Risk
RS768710712
Conflicting classifications of pathogenicity
Xanthinuria type II, Xanthinuria type II
Health Risk
RS910676616
Conflicting classifications of pathogenicity
Xanthinuria type II, Xanthinuria type II
Health Risk
RS1164875023
Likely pathogenic
Xanthinuria type II, Xanthinuria type II
Health Risk
RS1262090219
Likely pathogenic
Xanthinuria type II, Xanthinuria type II
Health Risk
RS1318625944
Likely pathogenic
Xanthinuria type II, Xanthinuria type II
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1156588840 | Health Risk | Conflicting classifications of pathogenicity | Xanthinuria type II, Xanthinuria type II |
| RS139002197 | Health Risk | Conflicting classifications of pathogenicity | Xanthinuria type II, MOCOS-related disorder, Xanthinuria type II |
| RS144081367 | Health Risk | Conflicting classifications of pathogenicity | Xanthinuria type II, Xanthinuria type II |
| RS144644128 | Health Risk | Conflicting classifications of pathogenicity | Xanthinuria type II, Xanthinuria type II |
| RS200725272 | Health Risk | Conflicting classifications of pathogenicity | Xanthinuria type II, Xanthinuria type II |
| RS2091346076 | Health Risk | Conflicting classifications of pathogenicity | Xanthinuria type II, Xanthinuria type II |
| RS747252798 | Health Risk | Conflicting classifications of pathogenicity | Xanthinuria type II, Xanthinuria type II |
| RS768710712 | Health Risk | Conflicting classifications of pathogenicity | Xanthinuria type II, Xanthinuria type II |
| RS910676616 | Health Risk | Conflicting classifications of pathogenicity | Xanthinuria type II, Xanthinuria type II |
| RS1164875023 | Health Risk | Likely pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS1262090219 | Health Risk | Likely pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS1318625944 | Health Risk | Likely pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS1362463869 | Health Risk | Likely pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS138341349 | Health Risk | Likely pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS1424773596 | Health Risk | Likely pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS2510968407 | Health Risk | Likely pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS2510984845 | Health Risk | Likely pathogenic | Xanthinuria type II, MOCOS-related disorder, Xanthinuria type II |
| RS2511387782 | Health Risk | Likely pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS2511390167 | Health Risk | Likely pathogenic | MOCOS-related disorder, MOCOS-related disorder |
| RS142150953 | Health Risk | Pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS1699077839 | Health Risk | Pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS2091474513 | Health Risk | Pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS2510966451 | Health Risk | Pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS2510983262 | Health Risk | Pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS2510984970 | Health Risk | Pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS775406459 | Health Risk | Pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS886037854 | Health Risk | Pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS886037855 | Health Risk | Pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS750896617 | Health Risk | Pathogenic/Likely pathogenic | Xanthinuria type II, Autism spectrum disorder, Xanthinuria type II |
| RS761752580 | Health Risk | Pathogenic/Likely pathogenic | Xanthinuria type II, Xanthinuria type II |