PKP1
Description
The PKP1 (plakophilin 1) is a protein-coding gene located on chromosome 1.
Plakophilin-1 is a protein encoded by the PKP1 gene in humans. It belongs to the arm-repeat (armadillo) and plakophilin gene families and contains numerous armadillo repeats. Plakophilin-1 localizes to cell desmosomes and nuclei, and links cadherins to intermediate filaments in the cytoskeleton. It plays a role in molecular recruitment and stabilization during desmosome formation. Mutations in the PKP1 gene have been associated with ectodermal dysplasia/skin fragility syndrome. Plakophilin-1 interacts with Desmoplakin.
PKP1 is also known as B6P, EDSFS.
