title: Defective interactions of protein partner with ion channels and transporters as alternative mechanisms of membrane channelopathies.
abstract: The past twenty years have revealed the existence of numerous ion channel mutations resulting in human pathology. Ion channels provide the basis of diverse cellular functions, ranging from hormone secretion, excitation-contraction coupling, cell signaling, immune response, and trans-epithelial transport. Therefore, the regulation of biophysical properties of channels is vital in human physiology. Only within the last decade has the role of non-ion channel components come to light in regard to ion channel spatial, temporal, and biophysical regulation in physiology. A growing number of auxiliary components have been determined to play elemental roles in excitable cell physiology, with dysfunction resulting in disorders and related manifestations. This review focuses on the broad implications of such dysfunction, focusing on disease-causing mutations that alter interactions between ion channels and auxiliary ion channel components in a diverse set of human excitable cell disease. This article is part of a Special Issue entitled: Reciprocal influences between cell cytoskeleton and membrane channels, receptors and transporters. Guest Editor: Jean Claude Hervé
authors.affiliation: The Dorothy M. Davis Heart and Lung Research Institute, Department of Internal Medicine, Division of Cardiovascular Medicine, Department of Physiology & Cell Biology, The Ohio State University Wexner Medical Center, USA.
authors.forename: Crystal F
authors.initials: CF
authors.lastname: Kline
authors.affiliation: The Dorothy M. Davis Heart and Lung Research Institute, Department of Internal Medicine, Division of Cardiovascular Medicine, Department of Physiology & Cell Biology, The Ohio State University Wexner Medical Center, USA. Electronic address: peter.mohler@osumc.edu.
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Mohler
mesh_terms: D000818:Animals; D001692:Biological Transport; D053447:Channelopathies / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D007473:Ion Channels / Q000378:metabolism*; D054730:Protein Interaction Domains and Motifs
chemical_list: D007473:Ion Channels
keywords: Ankyrin-B syndrome; Auxiliary subunit; Cardiac arrhythmia; Catecholaminergic polymorphic ventricular tachycardia; Ion channel