Recombinant Human PCBD1 Protein (His Tag) (PKSH032981)
For research use only.
| Synonyms | 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 |
| Species | Human |
| Expression Host | E.coli |
| Sequence | Ala2-Thr104 |
| Accession | P61457 |
| Calculated Molecular Weight | 14.2 kDa |
| Observed Molecular Weight | 14 kDa |
| Tag | N-His |
| Bio-activity | Not validated for activity |
| Purity | > 95 % as determined by reducing SDS-PAGE. |
| Endotoxin | < 1.0 EU per μg of the protein as determined by the LAL method. |
| Storage | Store at < -20°C, stable for 6 months. Please minimize freeze-thaw cycles. |
| Shipping | This product is provided as liquid. It is shipped at frozen temperature with blue ice/gel packs. Upon receipt, store it immediately at < - 20°C. |
| 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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