Literature associating PCBD1 and distal arthrogryposis type 6
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 ...