American Thoracic Society Conference
(Booth # 1146) in Philadelphia, PA
5/19 - 5/23
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).