蛋白名称
Hypoxanthine-guanine phosphoribosyltransferase
免疫原
The specific immunogen used to produce this antibody is proprietary information.
组成
PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA
纯化工艺
Recombinant Antibody expressed in animal component-free (ACF) media, purified via Protein A affinity chromatography.
储存
-15°C to -25°C/1 year(Do not lower than -25°C)
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:Belongs to the purine/pyrimidine phosphoribosyltransferase family. ,subunit:Homotetramer. ,
