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PKP1, plakophilin 1

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PKP1, plakophilin 1

  • 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. [provided by RefSeq, Jul 2010]

  • Gene Synonyms (plakophilin-1, band 6 protein, B6P, EDSFS,)
  • NCBI Gene ID: 5317
  • Species: Homo sapiens (Human)
  • UNIPROT ID#>>A0A024R952
    UNIPROT ID#>>Q13835
  • View the NCBI Database for this Gene »

The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.

The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

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