BackgroundPterin-4-α-Carbinolamine Dehydratase (PCBD1) is the founding member of the Pterin-4-α-Carbinolamine Dehydratase Family. PCBD1 is involved in Tetrahydrobiopterin biosynthesis. It seems to prevent the formation of 7-Pterins and accelerate the formation of Quinonoid-BH2. Furthermore, PCBD1 regulates the homodimerization of the transcription factor Hepatocyte Nuclear Factor 1 (HNF1) and enhances its transcriptional activity. Defects in PCBD1 are the cause of BH4-Deficient Hyperphenylalaninemia Type D (HPABH4D). HPABH4D is characterized by the excretion of 7-substituted Pterins in the urine of affected patients.
PackagingDry ice/Polar packs
FormulationSupplied as a 0.2 μm filtered solution of 20mM TrisHCl, 150mM NaCl, 1mM DTT, pH 8.0.
ALTnamesPterin-4-Alpha-Carbinolamine Dehydratase, PHS, 4-Alpha-Hydroxy-Tetrahydropterin Dehydratase, Dimerization Cofactor of Hepatocyte Nuclear Factor 1-Alpha, DCoH, Dimerization Cofactor of HNF1, Phenylalanine Hydroxylase-Stimulating Protein, Pterin Carbinolamine Dehydratase, PCD, PCBD1, DCOH, PCBD