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.
Aliases: HPRT; HGPRT
Entrez GeneID: 3251
Swissprot: P00492
WB Predicted band size: 24.6kDa
Host/Isotype : Mouse IgG1
Species Reactivity: Human
Immunogen: Purified recombinant fragment of human HPRT1 (AA: FULL(1-218)) expressed in E. Coli.