Reagents, Molecular Assay, Gene Anomaly, Mutation, HPRT1
Definition : Molecular assay reagents intended to identify mutations in the hypoxanthine-guanine phosphoribosyltransferase 1 (HPRT1) gene, located at chromosome Xq26.1, which encodes for the HPRT1 enzyme that allows recycling of purine building blocks of RNA and DNA. Mutations at this locus have been identified in patients with early infant onset of Lesch-Nyhan syndrome, gout, and acute renal failure.
Entry Terms : "HPRT-Related Gout Gene Mutation Detection Reagents" , "Lesch-Nyhan Syndrome Gene Mutation Detection Reagents" , "HPRT1 Gene Mutation Detection Reagents"
UMDC code : 24472