PCBD1 polyclonal antibody

PCBD1 (pterin-4 α-carbinolamine dehydratase), also known as PCD, PHS, DCOH (dimerization cofactor of hepatocyte nuclear factor 1 α) or PCBD, is a component of the phenylalanine hydroxylase (PAH) system and participates in
tetrahydrobiopterin biosynthesis. More specifically, PCBD1 catalyzes the dehydration of pterin-4α-carbinolamine (4-OH-BH4) to quinonoid dihydrobiopterin(q-BH2), an essential reaction for the regeneration of 6(R)-L-erythro-5,6,7,8-tetrahydrobiopterin (6(R)BH4). In addition, PCBD1 can homodimerize and, in this dimer, can function as a transcriptional activator cofactor for HNF-1α.Mutations in the gene encoding PCBD1 lead to an accumulation of 4-OH-BH4 which subsequently produces 7-BH4 (a potent inhibitor of PAH), and may result in primapterinuria. Patients with primapterinuria (a mild form of phenylketonuria (PKU) exhibit both hyperphenylalaninemia (HPA) and excretion of 7-substituted pterins.