HPRT Monoclonal Antibody

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.,