HPRT1, Official Symbol HPRT1provided by HGNC Official Full Name hypoxanthine phosphoribosyltransferase 1provided by HGNC Primary source HGNC:HGNC:5157 See related Ensembl:ENSG00000165704 MIM:308000; AllianceGenome:HGNC:5157 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HPRT; HGPRT Summary 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] Expression Broad expression in testis (RPKM 45.9), brain (RPKM 28.9) and 25 other tissues See more Orthologs mouse all