Literature associating PCBD2 and distal arthrogryposis type 6
PCBD2 [ENSP00000421544]
Pterin-4-alpha-carbinolamine dehydratase 2; 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 ...