Molecular Pathology of Sodium Channel Beta-Subunit Variants.

ABSTRACT: The voltage-gated Na⁺ channel regulates the initiation and propagation of the action potential in excitable cells. The major cardiac isoform Na_V1.5, encoded by SCN5A, comprises a monomer with four homologous repeats (I-IV) that each contain a voltage sensing domain (VSD) and pore domain. In native myocytes, Na_V1.5 forms a macromolecular complex with Na_Vβ subunits and other regulatory proteins within the myocyte membrane to maintain normal cardiac function. Disturbance of the Na_V complex may manifest as deadly cardiac arrhythmias. Although SCN5A has long been identified as a gene associated with familial atrial fibrillation (AF) and Brugada Syndrome (BrS), other genetic contributors remain poorly understood. Emerging evide

SUBMITTER: Angsutararux P 

PROVIDER: S-EPMC8640220 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature