Check out the October 2016, Volume #3, Issue #10 of our newsletter.
PKP2 (NM_004572.3) encodes plakophilin-2, a protein of the desmosome involved in regulating adhesive activity and signaling. It also provides binding sites for desmoplakin, which links intermediate filaments. PKP2 is located at 12p11.21 and contains 14 exons. Mutations in PKP2 have been found in up to 70% of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD), a condition that displays variable expressivity and reduced penetrance. It is estimated that only 30-50% of individuals with a desmosomal mutation will ever fulfill diagnostic criteria. Typically, PKP2-inherited ARVD is autosomal dominant, and the alterations in PKP2 often result in a truncated protein (Murray B, J Genet Counsel. 2012;21:494-504).