| Protein Name | hypoxanthine phosphoribosyltransferase 1 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 3251 |
| Gene Symbol | HPRT1 |
| UniProt | P00492 (HPRT_HUMAN), A0A140VJL3 (A0A140VJL3_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
486
Total Number of Articles : 868 |
Description |
hypoxanthine phosphoribosyltransferase 1 |
| 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.[provided by RefSeq, Jun 2009] |
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