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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PCBD1-20-RE | 20 (40 μL) | 200 μL |  |
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| PCBD1-20-OR | 20 (40 μL) | 200 μL |  |
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| PCBD1-20-GO | 20 (40 μL) | 200 μL |  |
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| PCBD1-20-GR | 20 (40 μL) | 200 μL |  |
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| PCBD1-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : PCBD1
Gene Name : Pterin-4 alpha-carbinolamine dehydratase 1
Chromosome : CHR 10: 708,887,85-708,822,79
Locus : 10q22.1
Alt. Genes : ZNF263
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