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Catalog Number | orb1956372 |
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Category | Small Molecules |
Description | PRTFDC1 Protein, Human, Recombinant (His) |
Purity | 98.00% |
MW | Approxiamtely 27.5 kDa |
Biological Activity | PRTFDC1 is a member of the purine/pyrimidine phosphoribosyltransferase family. It can bind GMP, IMP and alpha-D-5-phosphoribosyl 1-pyrophosphate (PRPP). The epigenetic silencing of PRTFDC1 by hypermethylation of the CpG island leads to a loss of PRTFDC1 function, which might be involved in squamous cell oral carcinogenesis. PRTFDC1 is a genetic modifier of HPRT-deficiency in the mouse and has important implications for unraveling the molecular etiology of lesch-Nyhan disease(LND). LND is a severe X-linked neurological disorder caused by a deficiency of hypoxanthine phosphoribosyltransferase. PRTFDC1 has a low, barely measurable phosphoribosyltransferase activity (in vitro). |
Note | For research use only |
Expiration Date | 12 months from date of receipt. |
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