HPRT est un gène codé par le symbole HPRT1. Communément appelé aussi: Hypoxanthine-guanine phosphoribosyltransferase; HGPRT1. HPRT a une masse de 24.58kDa, une longueur d'acide aminé de 218, et est impliqué dans les maladies: Lesch-Nyhan syndrome; Gout HPRT-related.
Nous proposons 7 des anticorps contre HPRT, élevé dans Lapin et Souris, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF et Cytométrie en Flux avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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.
Résumé Entrez
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.
Implication dans la maladie
Lesch-Nyhan syndrome: Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation.
Gout HPRT-related: Characterized by partial enzyme activity and hyperuricemia.
Similitudes de séquence
Belongs to the purine/pyrimidine phosphoribosyltransferase family.
Localisation cellulaire
Cytoplasm.
