PRTFDC1 Protein, Human, Recombinant (His)

Ref. TM-TMPY-03332

Produktinformation

• Name: PRTFDC1 Protein, Human, Recombinant (His)
• Synonyme: HHGP, PRTFDC1, phosphoribosyl transferase domain containing 1

Beschreibung

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).

• Marke: Targetmol

Chemische Eigenschaften

• Molekulargewicht: 27.5 kDa (predicted)
• Farbe/Form: Solid