PKP2
MIM.602861 12p11
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Plakophilins (PKPs) are armadillo repeat-containing proteins that are localized in the desmosomal plaque and cell nucleus.
Desmosomal plakophilins, like plakophilin-2 (PKP2), form part of the link between the cytoplasmic tail of cadherins (CDHs) and the intermediate filament cytoskeleton.
Pathology
PKP2 germline mutations in ARVD9 arrhythmogenic right ventricular dysplasia
References
Awad MM, Dalal D, Tichnell C, James C, Tucker A, Abraham T, Spevak PJ, Calkins H, Judge DP. Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2. Hum Mutat 2006; 27: 1157.