Name: Human PCBD1 Recombinant Protein (His Tag)
Synonyms: Pterin-4-Alpha-Carbinolamine Dehydratase;PHS;4-Alpha-Hydroxy-Tetrahydropterin Dehydratase;Dimerization Cofactor of Hepatocyte Nuclear Factor 1-Alpha;DCoH;Dimerization Cofactor of HNF1;Phenylalanine Hydroxylase-Stimulating Protein;Pterin Carbinolamine Dehydratase;PCD;PCBD1;DCOH;PCBD
Expression host: E.coli
Sequence: Ala2-Thr104
Accesstion: P61457
Species: Human
Mol_Mass: 14.2 kDa
AP_Mol_Mass: 14 kDa
Tag: N-His
Purity: > 95 % as determined by reducing SDS-PAGE.
Endotoxin:
Storage: Store at
Shipping: This product is provided as liquid. It is shipped at frozen temperature with blue ice/gel packs. Upon receipt, store it immediately at
Formulation: Supplied as a 0.2 μm filtered solution of 20mM Tris-HCl, 150mM NaCl, 1mM DTT, pH 8.0.
Reconstitution: Not Applicable
Background: 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.
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