蛋白名称
Hypoxanthine-guanine phosphoribosyltransferase
免疫原
Purified recombinant fragment of HPRT expressed in E. Coli.
特异性
HPRT Monoclonal Antibody detects endogenous levels of HPRT protein.
组成
Ascitic fluid containing 0.03% sodium azide,0.5% BSA, 50%glycerol.
稀释比例
Western Blot: 1/500 - 1/2000. ELISA: 1/10000. Not yet tested in other applications.
纯化工艺
Affinity purification
其他名称
HPRT1; HPRT; Hypoxanthine-guanine phosphoribosyltransferase; HGPRT; HGPRTase
背景
hypoxanthine phosphoribosyltransferase 1(HPRT1) Homo sapiens 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],
功能
catalytic activity:GMP + diphosphate = guanine + 5-phospho-alpha-D-ribose 1-diphosphate.,catalytic activity:IMP + diphosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate.,cofactor:Binds 2 magnesium ions per subunit. One of the ions does not make direct protein contacts.,disease:Defects in HPRT1 are the cause of gout [MIM:300323]; also known as HPRT-related gout or Kelley-Seegmiller syndrome. Gout is characterized by partial enzyme activity and hyperuricemia.,disease:Defects in HPRT1 are the cause of Lesch-Nyhan syndrome (LNS) [MIM:300322]. LNS is characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation.,online information:Hypoxanthine-guanine phosphoribosyltransferase entry,pathway:Purine metabolism; IMP biosynthesis via salvage pathway; IMP from hypoxanthine: step 1/1.,similarity:B
