Definitions for hypoxanthine phosphoribosyltransferase

This page provides all possible meanings and translations of the word hypoxanthine phosphoribosyltransferase

U.S. National Library of Medicine

  1. Hypoxanthine Phosphoribosyltransferase

    An enzyme that catalyzes the conversion of 5-phosphoribosyl-1-pyrophosphate and hypoxanthine, guanine, or 6-mercaptopurine to the corresponding 5'-mononucleotides and pyrophosphate. The enzyme is important in purine biosynthesis as well as central nervous system functions. Complete lack of enzyme activity is associated with the LESCH-NYHAN SYNDROME, while partial deficiency results in overproduction of uric acid. EC

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