Please be on the look out for
Ambry Representatives at :
Canadian College of Medical Geneticists: (CCMG)
Annual Meeting 2013
11/7 - 11/9
This gene is composed of 15 exons and codes for a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. This protein is located at cellular junctions and is involved with the interaction of plaque proteins, and intermediate microfilaments with regards to cell-cell adhesion. Mutations in this gene have been shown to lead to Arrythmogenic right ventricular cardiomyopathy (ARVD/C).