Aliases for SCN5A Gene
- Sodium Channel, Voltage Gated, Type V Alpha Subunit 2 3
- Sodium Channel, Voltage-Gated, Type V, Alpha Subunit 2 3
- Sodium Channel Protein Cardiac Muscle Subunit Alpha 3 4
- Voltage-Gated Sodium Channel Subunit Alpha Nav1.5 3 4
- CDCD2 3 6
- CMD1E 3 6
- SSS1 3 6
- LQT3 3 6
- Hb1 3 6
- HH1 3 4
- VF1 3 6
- Cardiac Tetrodotoxin-Insensitive Voltage-Dependent Sodium Channel Alpha Subunit 3
External Ids for SCN5A Gene
Previous HGNC Symbols for SCN5A Gene
Previous GeneCards Identifiers for SCN5A Gene
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]
GeneCards Summary for SCN5A Gene
SCN5A (Sodium Channel, Voltage Gated, Type V Alpha Subunit) is a Protein Coding gene. Diseases associated with SCN5A include sick sinus syndrome and long qt syndrome. Among its related pathways are Interaction between L1 and Ankyrins and G-Beta Gamma Signaling. GO annotations related to this gene include enzyme binding and ubiquitin protein ligase binding. An important paralog of this gene is CACNA1D.
UniProtKB/Swiss-Prot for SCN5A Gene
This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. 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. This channel is responsible for the initial upstroke of the action potential. Channel inactivation is regulated by intracellular calcium levels.
Voltage-gated sodium channels (NaV) are responsible for action potential initiation and propagation in excitable cells, including nerve, muscle, and neuroendocrine cell types. They are also expressed at low levels in non-excitable cells, where their physiological role is unclear. Structurally, Nav channels are composed of one pore-forming alpha-subunit, which may be associated with either one or more beta-subunits. alpha-subunits are composed for four homologous domains, each of which contains six transmembrane segments. The fourth transmembrane loop (S4) acts as the 'voltage sensor' and is activated by changes in membrane potential. S4 is also involved in channel gating.