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We found evidence for PRTFDC1 as a potential novel PTSD gene, a finding that awaits further replication.
These results demonstrate that PRTFDC1 is a genetic modifier of HPRT-deficiency in the mouse.
The PRTFDC1 structure has been determined at 1.7 A resolution with bound GMP. The overall structure and GMP binding mode are very similar to that observed for HPRT.
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.
Has low, barely detectable phosphoribosyltransferase activity (in vitro). Binds GMP, IMP and alpha-D-5-phosphoribosyl 1-pyrophosphate (PRPP). Is not expected to contribute to purine metabolism or GMP salvage.
phosphoribosyltransferase domain-containing protein 1
, HHGP protein
, phosphoribosyl transferase domain containing 1
, hypoxanthine phosphoribosyltransferase