JPH2

Description 
Junctophilin 2


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).

Aliases 
CMH17, JP-2, JP2
Chromosomal Locations 
20q13.12