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Protein Coding Gene : Pcbd1 pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1
Primary Identifier  MGI:94873 Organism  mouse, laboratory
Chromosome  10 NCBI Gene Number  13180
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Enables identical protein binding activity and phenylalanine 4-monooxygenase activity. Predicted to be involved in L-phenylalanine metabolic process. Predicted to act upstream of or within positive regulation of DNA-templated transcription. Located in nucleus. Is expressed in several structures, including ganglia; genitourinary system; gut; liver lobe; and lung. Human ortholog(s) of this gene implicated in BH4-deficient hyperphenylalaninemia D. Orthologous to human PCBD1 (pterin-4 alpha-carbinolamine dehydratase 1).
PHENOTYPE: Homozygous mutant mice display hyperphenylalaninemia, are mildly glucose intolerant, and are predisposed to cataract formation. [provided by MGI curators]
  • synonyms:
  • Pcbd1,
  • MGD-MRK-8812,
  • Pcbd,
  • pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1,
  • 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1),
  • Dcoh,
  • dimerization cofactor of hepatocyte nuclear factor-1-alpha
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