基因名：
PCBD1
产品别名：
DCOH； PCBD； PCD； PHS； PCBD1； pterin-4 alpha-carbinolamine dehydratase 1； pterin-4 alpha-carbinolamine dehydratase 1； pterin-4-alpha-carbinolamine dehydratase； 4-alpha-hydroxy-tetrahydropterin dehydratase； 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)； dimerizing cofactor for HNF1； phenylalanine hydroxylase-stimulating protein； pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha； 蝶呤甲醇胺脱水酶1；
背景信息：
Pterin-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.
