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| 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: |
| Gene position | 133594175 - 133634698 Map Viewer |
| OMIM ID | 308000 |