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pcbd1

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Official Full Name
pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
Background
This gene 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).
Synonyms
PCBD1; pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha; 6 pyruvoyl tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) , DCOH, PCBD, pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1); pterin-4-alpha-carbinolamine dehydratase; dimerizing cofactor for HNF1; PCD; pterin 4 alpha carbinolamine dehydratase; Pterin 4a carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1 alpha); 4 alpha hydroxy tetrahydropterin dehydratase; 4-alpha-hydroxy-tetrahydropterin dehydratase; 6 pyruvoyl tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1); 6 pyruvoyl tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha; DCoH; Dimerization cofactor of hepatic nuclear factor 1 alpha; Dimerization cofactor of hepatocyte nuclear factor 1 alpha; Dimerization cofactor of hepatocyte nuclear factor 1-alpha; Dimerization cofactor of HNF1; PCBD 1; PCBD; Phenylalanine hydroxylase stimulating protein; Phenylalanine hydroxylase-stimulating protein; PHS; PHS_HUMAN; Pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1); Pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha; Pterin carbinolamine dehydratase; OTTHUMP00000019765; 6-pyruvoyl-tetrahydropterin synthase/dimeriza; 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1); PCD, PHS, DCOH, PCBD; cDcoH; 6-pyruvoyl-tetrah; zgc:73389; 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor

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