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Details of MOCOS gene in Homo sapiens
Disease |
Disease |
OMIM id |
Xanthinuria 2 (XU2) [MIM:603592]: A disorder characterized by excretion of very large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. In addition, patients suffering of xanthinuria 2 cannot metabolize allopurinol into oxypurinol due to dual deficiency of xanthine dehydrogenase and aldehyde oxidase. Note=The disease is caused by mutations affecting the gene represented in this entry. |
603592 |