{"symbol":"HPRT1","synonyms":["HGPRT","HPRT"],"name":"hypoxanthine phosphoribosyltransferase 1","description":"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]","ncbiEntrezGeneId":3251,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/3251","proteins":[{"symbol":"HPRT_HUMAN","href":"/api/1.0/protein/HPRT_HUMAN"}],"hgncRootFamilies":[]}