Recombinant Human PHS Protein (N-6His)
Beta LifeScience
SKU/CAT #: BL-1293NP
Recombinant Human PHS Protein (N-6His)
Beta LifeScience
SKU/CAT #: BL-1293NP
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Product Overview
Description | Recombinant Human Pterin-4-alpha-Carbinolamine Dehydratase is produced by our E.coli expression system and the target gene encoding Ala2-Thr104 is expressed with a 6His tag at the N-terminus. |
Accession | P61457 |
Synonym | 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 |
Gene 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. |
Molecular Mass | 14.2 KDa |
Apmol Mass | 14 KDa, reducing conditions |
Formulation | Supplied as a 0.2 μm filtered solution of 20mM Tris-HCl, 150mM NaCl, 1mM DTT, pH 8.0. |
Endotoxin | Less than 0.1 ng/µg (1 EU/µg) as determined by LAL test. |
Purity | |
Biological Activity | Not tested |
Reconstitution | |
Storage | Store at ≤-70°C, stable for 6 months after receipt. Store at ≤-70°C, stable for 3 months under sterile conditions after opening. Please minimize freeze-thaw cycles. |
Shipping | The product is shipped on dry ice/polar packs. Upon receipt, store it immediately at the temperature listed below. |
Usage | For Research Use Only |
Target Details
Target Function | Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity. Also acts as a coactivator for HNF1B-dependent transcription. |
Subcellular Location | Cytoplasm. Nucleus. |
Protein Families | Pterin-4-alpha-carbinolamine dehydratase family |
Database References | |
Associated Diseases | Hyperphenylalaninemia, BH4-deficient, D (HPABH4D) |
Gene Functions References
- We provide the first genetic evidence that PCBD1 mutations can cause early-onset nonautoimmune diabetes with features similar to dominantly inherited HNF1A-diabetes. PMID: 24848070
- Coactivator of the HNFB1 (HNF1 homeobox B)-mediated transcription is necessary for fine tuning ATPase Na+/K+ transporting gamma 1 polypeptide (FXYD2) transcription in the distal convoluted tubule PMID: 24204001
- Pcbd1 is a moonlighting protein that has dehydratase activity in addition to functioning as a cofactor which regulates HNF1alpha. PMID: 9092652
- variants of the hepatocyte nuclear factor-1beta (HNF-1beta / TCF2) and the dimerization cofactor of HNF-1 (DcoH/PCBD) genes in relation to type 2 diabetes mellitus and beta-cell function PMID: 11668623
- Data reveal DCoH/HNF-1 alpha expression and transcriptional activity in human epidermal melanocytes in vitro and in situ and identified tyrosinase, the key enzyme for pigmentation, as a new transcriptional target. PMID: 12565907
- Albumin colocalized together with its transcription factor PCD/DCoH/HNF-1alpha in suprabasal keratinocytes in human full-thickness skin sections and in keratinocytes cultured in serum-free medium. PMID: 15740590
- Properties of dehydratase/DCoHalpha are consistent with hypothesis that activity of this isozyme could account for relatively mild symptoms reported for patients with a defect in dehydratase/DCoH PMID: 16423549