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Human PCBD1 Recombinant Protein (RPES3527)

SKU:
RPES3527
Product Type:
Recombinant Protein
Species:
Human
Research Area:
Metabolism
€357
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Description

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Human PCBD1 Recombinant Protein

Pterin-4-?-Carbinolamine Dehydratase (PCBD1) is the founding member of the Pterin-4-?-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.