PCBD1 Back

pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha

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NCBI Description of PCBD1
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).

Community Annotation of PCBD1 Add / Edit PCBD1: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

PCBD1 is highly significantly mutated in
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PCBD1 is significantly mutated in
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PCBD1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for PCBD1