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 a member of the junctophilin gene family. JPH2 codes for a protein that is a component of junctional complexes. This protein is necessary for the proper intracellular signaling in cardiac muscle cells. Mutations in this gene cause hypertrophic cardiomyopathy (HCM).