DISEASES

Disease-gene associations mined from literature

Literature associating PCBD1 and vitiligo

PCBD1 [ENSP00000299299]

Pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha; Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity; Belongs to the pterin-4-alpha-carbinolamine dehydratase family.

Synonyms:  PCBD1,  PCBD1p,  hPCBD1,  P61457,  Q6LEE0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM