Hypoxanthine Phosphoribosyltransferase 1 (HPRT1)
[ Edit ]
HGPRT; HPRT; Lesch-Nyhan Syndrome
 HGNC 5157
 MGI 96217
 PubMed 16355393
 RGD 2826
 UniProt P00492
 USCN A717
 Wiki HPRT
Hypoxanthine Phosphoribosyltransferase 1 (HPRT1)
HPRT1 has a central role in the generation of purine nucleotides through the purine salvage pathway. HPRT1 catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. The Lesch-Nyhan syndrome is particularly favorable for this purpose because no affected males reproduce, the diagnosis is unequivocal and cases come readily to attention, and particularly because heterozygosity can be demonstrated in females by the existence of 2 populations of cultured fibroblasts. There were few new mutations, contrary to the expected one-third. On the other hand, about one-half of heterozygous females were new mutations, as is predicted by theory.
Organism species: Homo sapiens (Human)
CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA717Hu01 Recombinant Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) SDS-PAGE; WB; ELISA; IP.
Antibodies MAA717Hu22 Monoclonal Antibody to Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) WB, ICC, IHC-P, IHC-F, ELISA
PAA717Hu01 Polyclonal Antibody to Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) WB, ICC, IHC-P, IHC-F, ELISA
Assay Kits SEA717Hu ELISA Kit for Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) Enzyme-linked immunosorbent assay
Organism species: Mus musculus (Mouse)
CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA717Mu01 Recombinant Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) SDS-PAGE; WB; ELISA; IP.
RPA717Mu02 Recombinant Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) SDS-PAGE; WB; ELISA; IP.
Antibodies PAA717Mu01 Polyclonal Antibody to Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) WB, ICC, IHC-P, IHC-F, ELISA
PAA717Mu02 Polyclonal Antibody to Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) IWB, ICC, IHC-P, IHC-F, ELISA
Assay Kits SEA717Mu ELISA Kit for Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) Enzyme-linked immunosorbent assay
Organism species: Rattus norvegicus (Rat)
CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a n/a n/a
Antibodies n/a n/a n/a
Assay Kits n/a n/a n/a