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Overview
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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.
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