title: The junctophilin family of proteins: from bench to bedside.
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.
authors.affiliation: Department of Pediatrics, Cardiovascular Research Institute, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Andrew P
authors.initials: AP
authors.lastname: Landstrom
authors.affiliation: Department of Molecular Physiology and Biophysics, Cardiovascular Research Institute, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: David L
authors.initials: DL
authors.lastname: Beavers
authors.affiliation: Department of Molecular Physiology and Biophysics, Cardiovascular Research Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Medicine (Cardiology), Cardiovascular Research Institute, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: wehrens@bcm.edu.
authors.forename: Xander H T
authors.initials: XH
authors.lastname: Wehrens
mesh_terms: D020013:Calcium Signaling; D009202:Cardiomyopathies / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D009124:Muscle Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000503:physiopathology; D054792:Muscle, Striated / Q000378:metabolism; D009135:Muscular Diseases / Q000235:genetics; D009154:Mutation; D009206:Myocardium / Q000378:metabolism; D009474:Neurons / Q000378:metabolism; D010802:Phylogeny
chemical_list: C000589041:JPH2 protein, human; D008565:Membrane Proteins; D009124:Muscle Proteins; C412507:junctophilin
keywords: JPH; calcium; excitation contraction coupling; junctophilin; mutation