Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) is an enzyme encoded in humans by the HPRT1 gene. [1][2] HGPRT is a transferase that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate.

Mar 30, 2025 · HPRT1 (Hypoxanthine Phosphoribosyltransferase 1) is a Protein Coding gene. Diseases associated with HPRT1 include Lesch-Nyhan Syndrome and Hyperuricemia, Hprt-Related. Among its related pathways are Nucleotide salvage and Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics.

Dec 1, 2007 · The HPRT1 gene provides instructions for producing an enzyme called hypoxanthine phosphoribosyltransferase 1. This enzyme allows cells to recycle purines, a type of building block of DNA and its chemical cousin RNA.

Apr 7, 2025 · 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.

These results have led to the surprising conclusion that the housekeeping HPRT gene serves not only to drive classical metabolic pathways, but also to regulate multiple key neurodevelopmental functions, a previously unrecognized role of a metabolic housekeeping gene.

Mutation in the HPRT1 gene is the most common reason underlying Lesch–Nyhan syndrome (LNS). The main manifestations of this syndrome include hyperuricemia, growth retardation, mental retardation, short stature, dance-like athetosis, aggressive behavior, and compulsive self …

Human HPRT is encoded by a single structural gene on the long arm of the X chromosome at Xq26. To date, more than 300 disease-associated mutations in the HPRT1 gene have been identified.

May 5, 2018 · Hypoxanthine guanine phosphoribosyltransferase (HPRT) is a common salvage housekeeping gene with a historically important role in cancer as a mutational biomarker.

Feb 8, 2025 · Data indicate that Hprt, Rpl13a and Tpt1 are a set of stably expressed reference genes for accurate gene expression normalization in myocardial infarction studies in mice. These results demonstrate that PRTFDC1 is a genetic modifier of HPRT-deficiency in the mouse.

Human HPRT deficiency leads to two major forms of human disease. Partial enzyme deficiency results in gouty arthritis, while an almost complete deficiency leads to the Lesch-Nyhan disease.