DISEASES

Disease-gene associations mined from literature

Literature associating PCBD2 and distal arthrogryposis type 6

PCBD2 [ENSP00000421544]

Dimerization cofactor of hepatocyte nuclear factor 1 from muscle; Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2 (By similarity).

Synonyms:  PCBD2,  PCBD2p,  hPCBD2,  H0YA52,  Q9H0N5 ...

Linkouts:  STRING  Pharos  UniProt