title: The multi-faceted aspects of the complex cardiac Nav1.5 protein in membrane function and pathophysiology.
abstract: The aim of this mini-review is to draw together the main concepts and findings that have emerged from recent studies of the cardiac channel protein Nav1.5. This complex protein is encoded by the SCN5A gene that, in its mutated form, is implicated in various diseases, particularly channelopathies, specifically at cardiac tissue level. Here we describe the structural, and functional aspects of Nav1.5 including post-translational modifications in normal conditions, and the main human channelopathies in which this protein may be the cause or trigger. Lastly, we also briefly discuss interacting proteins that are relevant for these channel functions in normal and disease conditions.
authors.affiliation: CEINGE-Biotecnologie Avanzate s.c.ar.l., Naples, Italy.
authors.forename: Nicola
authors.initials: N
authors.lastname: Detta
authors.affiliation: CEINGE-Biotecnologie Avanzate s.c.ar.l., Naples, Italy; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Frisso
authors.affiliation: CEINGE-Biotecnologie Avanzate s.c.ar.l., Naples, Italy; IRCCS-Fondazione SDN, Naples, Italy. Electronic address: salvator@unina.it.
authors.forename: Francesco
authors.initials: F
authors.lastname: Salvatore
mesh_terms: D002462:Cell Membrane / Q000378:metabolism* / Q000473:pathology; D053447:Channelopathies / Q000235:genetics / Q000378:metabolism* / Q000503:physiopathology; D015870:Gene Expression; D006031:Glycosylation; D006801:Humans; D009154:Mutation; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D032383:Myocytes, Cardiac / Q000378:metabolism* / Q000473:pathology; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D025941:Protein Interaction Mapping; D011499:Protein Processing, Post-Translational; D017434:Protein Structure, Tertiary; D021122:Protein Subunits / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; D021122:Protein Subunits; C568320:SCN5A protein, human
keywords: Cardiac sodium channel; Channelopathies; Na(v)1.5; Na(v)1.5 biology; SCN5A; Sodium channel kinetics