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.

Codice: PKSH032981_50μg | Marca: Elabscience | Confezionamento: 50μg

Specie: Human

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Codice: PKSH032981_50μg
Marca: Elabscience
Specie target: Human
Host: E.coli
Confezionamento: Supplied as a 0.2 μm filtered solution of 20mM Tris-HCl, 150mM NaCl, 1mM DTT, pH 8.0.
Link: Apri link
Stoccaggio: Store at < -20°C, stable for 6 months. Please minimize freeze-thaw cycles.
Simbolo target: PCBD1
Ig target: 4-Alpha-Hydroxy-Tetrahydropterin Dehydratase;DCoH;Dimerization Cofactor of HNF1;Dimerization Cofactor of Hepatocyte Nuclear Factor 1-Alpha;PHS;Phenylalanine Hydroxylase-Stimulating Protein;Pterin Carbinolamine Dehy;Pterin-4-Alpha-Carbinolamine Dehydratase
Area di ricerca: Signal Transduction;epigenetics and nuclear signal;metabolism;

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