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, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 3p21

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

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

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

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