SCN5A Antibody – Goat Polyclonal

The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

SCN5A: an integral membrane protein and a voltage-gated sodium channel subunit. Mediates the voltage-dependent sodium ion permeability of excitable membranes. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant Na(+) channel isoform. Intracellular calcium levels regulate channel inactivation. Interacts with the PDZ domain of the syntrophin SNTA1, SNTB1 and SNTB2. Interacts with NEDD4, NEDD4L, WWP2 and GPD1L. Defects in this protein are a cause of long QT syndrome type 3 (LQT3). Belongs to the sodium channel (TC 1.A.1.10) family, Nav1.5/SCN5A subfamily. 6 isoforms of the human protein are produced by alternative splicing.

Protein type: Channel, sodium; Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 3p21

Cellular Component: voltage-gated sodium channel complex; cell surface; endoplasmic reticulum; T-tubule; plasma membrane; integral to membrane; caveola; sarcolemma; lateral plasma membrane

Molecular Function: calmodulin binding; protein binding; enzyme binding; fibroblast growth factor binding; ubiquitin protein ligase binding; voltage-gated sodium channel activity; ankyrin binding; nitric-oxide synthase binding; protein kinase binding

Biological Process: axon guidance; membrane depolarization; telencephalon development; regulation of heart rate; sodium ion transport; generation of action potential; cerebellum development; response to denervation involved in regulation of muscle adaptation; positive regulation of action potential; positive regulation of epithelial cell proliferation; odontogenesis of dentine-containing teeth; cardiac muscle contraction

Disease: Sudden Infant Death Syndrome; Brugada Syndrome 1; Ventricular Fibrillation During Myocardial Infarction, Susceptibility To; Sick Sinus Syndrome 1, Autosomal Recessive; Progressive Familial Heart Block, Type Ia; Long Qt Syndrome 3; Cardiomyopathy, Dilated, 1e; Atrial Fibrillation, Familial, 10