Species Human Entrez 5317 | Human Mouse Ensembl ENSG00000081277 | |
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Aliases PKP1, B6P, plakophilin 1 External IDs MGI: 1328359 HomoloGene: 253 GeneCards: PKP1 | ||
Plakophilin-1 is a protein that in humans is encoded by the PKP1 gene.
Contents
Function
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.
Interactions
PKP1 has been shown to interact with Desmoplakin.
References
Plakophilin-1 Wikipedia(Text) CC BY-SA