HPRT1 (hypoxanthine phosphoribosyltransferase 1) is an enzyme that plays a crucial role in the purine salvage pathway, which is essential for the recycling of purine nucleotides. It catalyzes the conversion of hypoxanthine to inosine monophosphate (IMP) and guanine to guanosine monophosphate (GMP) by transferring the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This process is vital for maintaining the supply of purine nucleotides needed for DNA and RNA synthesis, as well as for energy production in cells. Mutations in the HPRT1 gene can lead to conditions such as Lesch-Nyhan syndrome, characterized by the accumulation of uric acid due to impaired purine metabolism. Additionally, HPRT1 is implicated in various cancers, where its overexpression can promote cell proliferation and contribute to drug resistance.
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