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 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).