HPRT 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. [provided by RefSeq, Sep 2015]

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

Chromosomal Location of Human Ortholog: Xq26.1

Cellular Component: cytoplasm; cytosol

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

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

Disease: Kelley-seegmiller Syndrome; Lesch-nyhan Syndrome