HPRT è un gene codificato dal simbolo HPRT1. Comunemente indicato anche come: Hypoxanthine-guanine phosphoribosyltransferase; HGPRT1. HPRT ha una massa di 24.58kDa, una lunghezza di amminoacidi di 218, ed è implicato nella malattia: Lesch-Nyhan syndrome; Gout HPRT-related.
Offriamo 7 anticorpi contro HPRT, allevati nel Coniglio e Topo, che sono adatti per WB, IHC, ELISA, ICC/IF e Citometria a Flusso con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo 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.
Sommario di 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.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the purine/pyrimidine phosphoribosyltransferase family.
Posizione cellulare
Cytoplasm.
