Pterin-4-alpha-carbinolamine dehydratase Recombinant Protein | PHS recombinant protein
Recombinant Human Pterin-4-alpha-carbinolamine dehydratase
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Uniprot Description
PCBD1: 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. Defects in PCBD1 are the cause of BH4-deficient hyperphenylalaninemia type D (HPABH4D); also known as hyperphenylalaninemia with primapterinuria. HPABH4D is characterized by the excretion of 7-substituted pterins in the urine of affected patients. Belongs to the pterin-4-alpha-carbinolamine dehydratase family.
Protein type: EC 4.2.1.96; Lyase; Oxidoreductase; Transcription, coactivator/corepressor
Chromosomal Location of Human Ortholog: 10q22.1
Cellular Component: cytosol; nucleoplasm; nucleus
Molecular Function: 4-alpha-hydroxytetrahydrobiopterin dehydratase activity; identical protein binding; protein binding
Biological Process: L-phenylalanine catabolic process
Disease: Hyperphenylalaninemia, Bh4-deficient, D
Research Articles on PHS
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Product Notes
The PHS pcbd1 (Catalog #AAA9422431) is a Recombinant Protein produced from Yeast and is intended for research purposes only. The product is available for immediate purchase. The immunogen sequence is Full Length, 2-104aa. The Recombinant Human Pterin-4-alpha-carbinolamine dehydratase reacts with Human and may cross-react with other species as described in the data sheet. The amino acid sequence is listed below: MAGKAHRLSA EERDQLLPNL RAVGWNELEG RDAIFKQFHF KDFNRAFGFM TRVALQAEKL DHHPEWFNVY N KVHITLS THECAGLSER DINLASFIEQ VAVSMT. It is sometimes possible for the material contained within the vial of "Pterin-4-alpha-carbinolamine dehydratase, Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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