Aliases for SCN1A Gene
- Sodium Voltage-Gated Channel Alpha Subunit 1 2 3 5
- NAC1 2 3 4
- Sodium Channel, Voltage-Gated, Type I, Alpha Subunit 2 3
- Voltage-Gated Sodium Channel Subunit Alpha Nav1.1 3 4
- Sodium Channel Protein Type 1 Subunit Alpha 3 4
- Sodium Channel Protein Type I Subunit Alpha 3 4
- GEFSP2 2 3
- Nav1.1 2 3
- HBSCI 2 3
- SCN1 3 4
- SMEI 2 3
- Sodium Channel, Voltage-Gated, Type I, Alpha Polypeptide 3
External Ids for SCN1A Gene
Previous HGNC Symbols for SCN1A Gene
Previous GeneCards Identifiers for SCN1A Gene
Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]
GeneCards Summary for SCN1A Gene
SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1) is a Protein Coding gene. Diseases associated with SCN1A include Dravet Syndrome and Generalized Epilepsy With Febrile Seizures Plus, Type 2. Among its related pathways are Cardiac conduction and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Gene Ontology (GO) annotations related to this gene include ion channel activity and voltage-gated sodium channel activity. An important paralog of this gene is SCN2A.
UniProtKB/Swiss-Prot Summary for SCN1A Gene
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. Plays a key role in brain, probably by regulating the moment when neurotransmitters are released in neurons. Involved in sensory perception of mechanical pain: activation in somatosensory neurons induces pain without neurogenic inflammation and produces hypersensitivity to mechanical, but not thermal stimuli.
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.