Please be on the look out for
Ambry Representatives at :
National Society of Genetic Counselors 2014
NSGC 33rd Annual Education Conference
Ernest N. Morial Convention Center
New Orleans, Louisiana
09/17/14 - 09/20/14
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).