DISEASES

Disease-gene associations mined from literature

Literature on PRTFDC1

PRTFDC1 [ENSP00000318602]

Phosphoribosyltransferase domain-containing protein 1; 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; Belongs to the purine/pyrimidine phosphoribosyltransferase family.

Synonyms:  PRTFDC1,  PRTFDC1p,  hPRTFDC1,  Q9NRG1,  Q9NRG1p ...

Linkouts:  STRING  Pharos  UniProt  OMIM