HGPRTase Antibody / HPRT1, 100 ug

Hypoxanthine-guanine phosphoribosyltransferase (HGPRT, HGPRTase) is an enzyme encoded in humans by the HPRT1 gene. 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.