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

Chromosomal Location of Human Ortholog: Xq26.2-q26.3

Cellular Component: cytoplasm; cytosol

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

Biological Process: adenine salvage; GMP catabolic process; GMP salvage; guanine salvage; hypoxanthine metabolic process; hypoxanthine salvage; IMP metabolic process; IMP salvage; positive regulation of dopamine metabolic process; protein homotetramerization; purine nucleotide biosynthetic process; purine ribonucleoside salvage; purine salvage

Disease: Kelley-seegmiller Syndrome; Lesch-nyhan Syndrome