HPRT Recombinant Rabbit Monoclonal Antibody - BSA and Azide free [JU03-26] (HA750452)

UNIPROT #

P00492

PROTEIN NAME

HPRT

SYNONYMS

HGPRT antibody;HGPRTase antibody;HPRT 1 antibody;HPRT_HUMAN antibody;HPRT1 antibody;Hypoxanthine guanine phosphoribosyltransferase antibody;Hypoxanthine phosphoribosyltransferase 1 (Lesch Nyhan syndrome) antibody;Hypoxanthine phosphoribosyltransferase 1 antibody;Hypoxanthine-guanine phosphoribosyltransferase antibody

SEQUENCE SIMILARITIES

Belongs to the purine/pyrimidine phosphoribosyltransferase family.

SUBCELLULAR LOCATION

Cytoplasm.

FUNCTION

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 self-mutilation, all of which are symptoms associated with LNS. The severity of these diseases suggests an essential role for HPRT in purine metabolism.