Definition: an enzyme present in human tissue that catalyzes the conversion of hypoxanthine and guanine to their respective 5' nucleotides, with 5-phosphoribose 1-diphosphate as the ribose-phosphate donor; a partial deficiency of this enzyme can result in elevated purine biosynthesis leading to gout; another level of deficiency is associated with Lesch-Nyhan syndrome.
Synonym(s): hypoxanthine guanine phosphoribosyltransferase
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