Gene Protein Transcript Blast result Transcript specific probe-cluster
Gene information for HPRT1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID3251
Official gene symbolHPRT1
Full namehypoxanthine phosphoribosyltransferase 1
Gene summaryThe 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.
LocationChromosome: X   Locus: 
Gene position133594175 - 133634698  Map Viewer
OMIM ID308000