Entrez gene ID | | 3251 |
Official gene symbol | | HPRT1 |
Full name | | hypoxanthine phosphoribosyltransferase 1 |
Aliases | | ,HGPRT,HPRT, |
Gene 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. |
Location | | Chromosome: X Locus: Xq26.1 |
Gene position | | 133594175 - 133634698 Map Viewer |
Gene orientation | | plus |
Gene size | | 40524 bp |
Gene sequence |
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OMIM ID | | 308000 |
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