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plakophilins


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A family of proteins with armadillo repeats found in desmosomal plaques and the cell nucleus. There are at least two isoforms of plakophilin 1, PKP1a (726 aa) and PKP1b (747 aa), the latter located exclusively in nuclei, whereas PKP1a is in nuclei and desmosomal plaques of stratified and complex epithelia. Mutations in PKP1 are the underlying cause of ectodermal dysplasia–skin fragility syndrome. Desmosomal plakophilins, like plakophilin 2 (837 aa and 881 aa isoforms), link the cytoplasmic tail of cadherins and the intermediate filament cytoskeleton. Mutations in the plakophilin-2 gene (PKP2) have been found in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC9). Plakophilin-3 (PKP3, 797 aa) interacts with catenin γ (plakoglobin), desmoplakin, and the epithelial keratin 18 and has been shown to bind all three desmogleins, desmocollin-3a and -3b, and possibly also desmocollin-1a and -2a. Plakophilin 4 (1149 aa) is p0071.

Subjects: Medicine and Health.


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