PKP2

Description 
Plakophilin-2


This gene is composed 14 exons and codes for a plakophilin protein. These proteins localize to cell desmosomes and nuclei which assemble to form cell adhesion complexes in the cytoskeleton. This gene product may be important for the assembly of junctional proteins, as well as a morphogenic factor for the heart. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). 

Aliases 
ARVD9
Chromosomal Locations 
12p11