Product Introduction
Bioactivity


英文名: PHS Protein, Human, Recombinant (His)

描述: 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.

存储条件: store at low temperatureLyophilized powder: -20~-80°C for 1 year | Solution: -80°C for 6~12 month

关键字: 4-a-Hydroxy-Tetrahydropterin Dehydratase | Pterin-4-a-Carbinolamine Dehydratase