Hypoxanthine Phosphoribosyltransferase 1; EC 2.4.2.8; HGPRTase; HGPRT; HPRT; Hypoxanthine-Guanine Phosphoribosyltransferase 1; Hypoxanthine-Guanine Phosphoribosyltransferase; Testicular Tissue Protein Li 89; Lesch-Nyhan Syndrome

The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.