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).
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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