Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) Antibody – Rabbit Polyclonal

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]

HPRT1: Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5- phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway. Defects in HPRT1 are the cause of Lesch-Nyhan syndrome (LNS). LNS is characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation. Defects in HPRT1 are the cause of gout HPRT-related (GOUT-HPRT); also known as HPRT-related gout or Kelley-Seegmiller syndrome. Gout is characterized by partial enzyme activity and hyperuricemia. Belongs to the purine/pyrimidine phosphoribosyltransferase family.

Protein type: EC 2.4.2.8; Transferase; Xenobiotic Metabolism - drug metabolism - other enzymes; Nucleotide Metabolism - purine; Cell development/differentiation

Chromosomal Location of Human Ortholog: Xq26.1

Cellular Component: cytoplasm; cytosol

Molecular Function: protein binding; protein homodimerization activity; hypoxanthine phosphoribosyltransferase activity; magnesium ion binding; nucleotide binding

Biological Process: grooming behavior; hypoxanthine metabolic process; lymphocyte proliferation; IMP salvage; striatum development; GMP salvage; nucleobase, nucleoside and nucleotide metabolic process; cytolysis; dendrite morphogenesis; response to amphetamine; locomotory behavior; adenine salvage; purine nucleotide biosynthetic process; dopamine metabolic process; purine base metabolic process; purine salvage; protein homotetramerization; cerebral cortex neuron differentiation; GMP catabolic process; positive regulation of dopamine metabolic process; IMP metabolic process; hypoxanthine salvage; purine ribonucleoside salvage; central nervous system neuron development; guanine salvage

Disease: Kelley-seegmiller Syndrome; Lesch-nyhan Syndrome