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PKP2

MIM.602861 12p11

plakophilin-2

 

Plakophilins are armadillo repeat-containing proteins that are localized in the desmosomal plaque and cell nucleus. Desmosomal plakophilins, like plakophilin 2, form part of the link between the cytoplasmic tail of cadherins and the intermediate filament cytoskeleton.

Pathology

-  germline mutations in ARVD9 arrhythmogenic right ventricular dysplasia


Plakophilins in desmosome

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