Please be on the look out for
Ambry Representatives at:
San Antonio Breast Cancer Symposium
Henry B. Gonzalez Convention Center
San Antonio, Texas
12/9/14 - 12/13/14
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).