The junctophilin family of proteins: from bench to bedside

Trends Mol Med. 2014 Jun;20(6):353-62. doi: 10.1016/j.molmed.2014.02.004. Epub 2014 Mar 14.

Abstract

Excitable tissues rely on junctional membrane complexes to couple cell surface signals to intracellular channels. The junctophilins have emerged as a family of proteins critical in coordinating the maturation and maintenance of this cellular ultrastructure. Within skeletal and cardiac muscle, junctophilin 1 and junctophilin 2, respectively, couple sarcolemmal and intracellular calcium channels. In neuronal tissue, junctophilin 3 and junctophilin 4 may have an emerging role in coupling membrane neurotransmitter receptors and intracellular calcium channels. These important physiological roles are highlighted by the pathophysiology which results when these proteins are perturbed, and a growing body of literature has associated junctophilins with the pathogenesis of human disease.

Keywords: JPH; calcium; excitation contraction coupling; junctophilin; mutation.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Calcium Signaling
  • Cardiomyopathies / genetics
  • Cardiomyopathies / metabolism
  • Humans
  • Membrane Proteins / chemistry
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism*
  • Muscle Proteins / chemistry
  • Muscle Proteins / genetics
  • Muscle Proteins / metabolism*
  • Muscle, Skeletal / metabolism*
  • Muscle, Skeletal / physiopathology
  • Muscle, Striated / metabolism
  • Muscular Diseases / genetics
  • Mutation
  • Myocardium / metabolism
  • Neurons / metabolism
  • Phylogeny

Substances

  • Membrane Proteins
  • Muscle Proteins
  • junctophilin
  • junctophilin-2 protein, human