Description
Product Characteristics:
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.[provided by RefSeq, Jun 2009].
Synonyms: HGPRT, HGPRTase, HPRT 1, HPRT_HUMAN, HPRT1, Hypoxanthine guanine phosphoribosyltransferase, Hypoxanthine phosphoribosyltransferase 1 Lesch Nyhan syndrome, Hypoxanthine phosphoribosyltransferase 1, Hypoxanthine-guanine phosphoribosyltransferase, HPRT_HUMAN.
Target Information: 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.[provided by RefSeq, Jun 2009]