PKP1 Back

plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)

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NCBI Description of PKP1
This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this gene.

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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

PKP1 is highly significantly mutated in
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PKP1 is significantly mutated in
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PKP1 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 PKP1