Article
Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans.
International journal of molecular sciences - 21 Nov 2012
Ichida Kimiyoshi, Amaya Yoshihiro, Okamoto Ken, Nishino Takeshi
Abstract excerpt
Xanthine oxidoreductase (XOR) catalyzes the conversion of hypoxanthine to xanthine and xanthine to uric acid with concomitant reduction of either NAD+ or O(2). The enzyme is a target of drugs to treat hyperuricemia, gout and reactive oxygen-related diseases. Human diseases associated with genetically determined dysfunction of XOR are termed xanthinuria, because of the excretion of xanthine in urine. Xanthinuria...
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