Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008]

  • Positive regulation of cytosolic calcium ion concentration
  • Multicellular organism development
  • Regulation of cardiac muscle tissue development
  • Calcium ion homeostasis
  • Regulation of ryanodine-sensitive calcium-release channel activity
  • Cardiomyopathy, familial hypertrophic, 17
  • Hypertrophic cardiomyopathy
  • Periodontosis
  • Dilated cardiomyopathy
  • Left ventricular noncompaction

Gene Location