Protein Name hypoxanthine phosphoribosyltransferase 1
Organism Homo sapiens
Gene ID 3251
Gene Symbol


UniProt P00492 (HPRT_HUMAN), A0A140VJL3 (A0A140VJL3_HUMAN)
Relationships Total Number of functionally related compound(s) : 486
Total Number of Articles : 868

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]

  • hypoxanthine-guanine phosphoribosyltransferase
  • HGPRTase
  • hypoxanthine guanine phosphoribosyl transferase
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