Recombinant Human Pterin-4-a-Carbinolamine Dehydratase/PHS/PCBD1 (N-6His)

Source: E.coli. MW :14.2kD. Recombinant Human PCBD1 is produced by our E.coli expression system and the target gene encoding Ala2-Thr104 is expressed with a 6His tag at the N-terminus. Pterin-4-a-Carbinolamine Dehydratase (PCBD1) is the founding member of the Pterin-4-a-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.