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pkp1

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Official Full Name
plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
Background
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.
Synonyms
B6P; PKP1; MGC138829; Plakophilin 1; plakophilin 1 (ectodermal dysplasia/skin fragility syndrome); plakophilin-1; band 6 protein

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