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PCBD1
Anti-PCBD1 Recombinant Antibody Products
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For Research Use Only. Not For Clinical Use.
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.
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Proximal tubular cells, Hepatocytes, Distal tubular cells)
Immune cell specificity
Low immune cell specificity
Cell line specificity
Cell line enhanced (CACO-2, Hep G2)
Interaction
Homotetramer and homodimer (By similarity). Heterotetramer with HNF1A; formed by a dimer of dimers (By similarity). Interacts with HNF1B (via HNF-p1 domain); the interaction increases HNF1B transactivation activity (PubMed:24204001).
Molecular function
Activator, Lyase
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