HPRT monoclonal antibody

HPRT (hypoxanthine phosphoribosyltransferase 1), also known as HGPRT or HPRT1, is a 218 amino acid cytoplasmic protein that belongs to the purine/pyrimidine phosphoribosyltransferase family. Involved in purine metabolism, HPRT functions as a purine salvage enzyme that catalyzes the conversion of hypoxathine and guanine to their respective mononucleotides (inosine monophosphate and guanosine monophosphate, respectively) . HPRT exists as a homotetramer that can bind two magnesium ions as cofactors. Defects in the gene encoding HPRT are the cause of gout and Lesch-Nyhan syndrome (LNS), both of which are characterized by a partial or complete lack of NPRT enzymatic activity. While a partial loss of HPRT enzymatic activity results in a buildup of uric acid (gout), a total loss of enzymatic activity results in hyperuricaemia, mental retardation, choreoathetosis and compulsive selfmutilation, all of which are symptoms associated with LNS. The severity of these diseases suggests an essential role for HPRT in purine metabolism.