Plakophilin

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A desmosome armadillo family protein that mediate interactions between cadherin tails and desmoplakin containing 8 to 9 ARM repeats.

  • Plakophilin-1 (Band-6 protein, B6P) coded by PKP1 gene at 1q32
    • Two isoforms, the nuclear one is involved in alternative splicing.
    • Mutations cause ectodermal dysplasia/skin fragility syndrome (EDSFS, McGrath syndrome)
  • Plakophilin-2 coded by PKP2 gene at 12p11
  • Plakophilin-3 coded by PKP3 gene at 11p15
  • Plakophilin-4 (p0071) coded by PKP4 gene at 2q23-q31
    • Two isoforms
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