CZRC Catalog ID: |
MA66 |
Product: |
HPRT |
Abbreviation: |
HGPRT, HGPRTase, HPRT1, HPRT |
Isotype: |
IgG |
Cellular Localization: |
Cytoplasm. |
Antibody type: |
Recombinant Rabbit Monoclonal Antibody |
Genecard: |
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. |
NoteInfo: |
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Species Reactivity: |
Human, Mouse, Rat, Zebrafish |
Antibody Description: |
pdf |
Recommended Dilutions:: |
WB: 1:500-1:2,000 IHC: 1:50-1:200 IP: 1:10-1:50 |
Size: |
100ul liquid |