Plakophilin 1 (PKP1)

Plakophilin-1 is 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.Compared with those in controls, desmosomes in PKP1-null patients were reduced dramatically both in size (49%) and frequency (61%) in the lower suprabasal layers (P less than 0.01). In the lower suprabasal compartment of the heterozygous carrier, corresponding reductions were 37% and 20%, respectively (P less than 0.01).