catalog number :
MBS281123
products type :
ELISA Kit
products full name :
Pig Hypoxanthine-guanine phosphoribosyltransferase (HPRT1) ELISA Kit
products short name :
Hypoxanthine-guanine phosphoribosyltransferase
other names :
hypoxanthine-guanine phosphoribosyltransferase; Hypoxanthine-guanine phosphoribosyltransferase; hypoxanthine-guanine phosphoribosyltransferase; HGPRTase; hypoxanthine phosphoribosyltransferase 1
products gene name :
HPRT1
other gene names :
HPRT1; HPRT1; HPRT; HGPRT; HPRT; HGPRT; HGPRTase
uniprot entry name :
HPRT_HUMAN
storage stability :
Store at 2-8 degree C.
ncbi acc num :
NP_000185.1
ncbi gb acc num :
NM_000194.2
ncbi mol weight :
24,579 Da
ncbi pathways :
Drug Metabolism - Other Enzymes Pathway (83033); Drug Metabolism - Other Enzymes Pathway (428); Metabolic Pathways (132956); Metabolism Pathway (477135); Metabolism Of Nucleotides Pathway (106263); Nucleotide Metabolism Pathway (198876); Purine Metabolism Pathway (82944); Purine Metabolism Pathway (106265); Purine Metabolism Pathway (307); Purine Salvage Pathway (106273)
ncbi summary :
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]
uniprot summary :
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; Cell development/differentiation; Nucleotide Metabolism - purine; Transferase; EC 2.4.2.8. 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; locomotory behavior; adenine salvage; 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; GMP salvage; nucleobase, nucleoside and nucleotide metabolic process; 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