The protein encoded by this gene is a transferase, whichcatalyzes conversion of hypoxanthine to inosine monophosphate andguanine to guanosine monophosphate via transfer of the5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. Thisenzyme plays a central role in the generation of purine nucleotidesthrough the purine salvage pathway. Mutations in this gene resultin Lesch-Nyhan syndrome or gout.
Pathway
Drug metabolism - other enzymes; Metabolism; Metabolism of nucleotides; Nucleotide Metabolism; Purine metabolism; Purine salvage; adenine and adenosine salvage III; guanine and guanosine salvage;
Citations
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