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PCBD1 encodes pterin-4 alpha-carbinolamine dehydratase, an enzyme involved in phenylalanine hydroxylation. A deficiency of this enzyme leads to hyperphenylalaninemia. The enzyme regulates the homodimerization of the transcription factor hepatocyte nuclear factor 1 (HNF1).
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: 4-alpha-hydroxy-tetrahydropterin dehydratase; 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1); DCoH; Dimerization cofactor of hepatocyte nuclear factor 1-alpha; dimerization cofactor of HNF1; dimerizing cofactor for HNF1; PCD; Phenylalanine hydroxylase-stimulating protein; PHS; pt; Pterin carbinolamine dehydratase; pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha; Pterin-4-alpha-carbinolamine dehydratase
Gene Aliases: DCOH; PCBD; PCBD1; PCD; PHS; TCF1
UniProt ID: (Human) P61457, (Mouse) Q9D930, (Rat) P61459
Entrez Gene ID: (Human) 5092, (Mouse) 13180, (Rat) 29700
Molecular Function:
dehydratase
lyase
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