Our Mission
We seek to bring together rare cases of disease due JPH2-encoded junctophilin 2 in order to determine the spectrum of disease phenotypes and establish the basis of mechanistic studies
What is JPH2 ?
JPH2, aka Junctophilin 2, is a protein encoded in the JPH2 gene. JPH2 is a junctional membrane complex protein in cardiac myocytes. It plays a critical role in maintaining proper calcium signaling and triggering the heart’s response to stress.
JPH2 in Disease
Variants in JPH2 have been linked with hypertrophic cardiomyopathy, non-ischemic dilated cardiomyopathy, and pediatric onset heart failure. JPH2 plays a critical role in maintaining calcium signaling in the cardiac myocyte and regulating the cardiac response to stress.
JPH2 Variants
Numerous variants have been identified in JPH2. What makes some variants associated with disease, and others not, remains unknown.
