Aliases for SCN8A Gene
- Sodium Channel, Voltage Gated, Type VIII Alpha Subunit 2 3
- Sodium Channel, Voltage Gated, Type VIII, Alpha Subunit 2 3
- Voltage-Gated Sodium Channel Subunit Alpha Nav1.6 3 4
- EIEE13 3 6
- CIAT 3 6
- MED 3 4
- Sodium Channel, Voltage Gated, Type VIII, Alpha Polypeptide 2
- Sodium Channel Protein Type VIII Subunit Alpha 4
External Ids for SCN8A Gene
Previous Symbols for SCN8A Gene
This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with mental retardation, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
GeneCards Summary for SCN8A Gene
SCN8A (Sodium Channel, Voltage Gated, Type VIII Alpha Subunit) is a Protein Coding gene. Diseases associated with SCN8A include epileptic encephalopathy, early infantile, 13 and cognitive impairment with or without cerebellar ataxia. Among its related pathways are L1CAM interactions and Activation of cAMP-Dependent PKA. GO annotations related to this gene include voltage-gated sodium channel activity. An important paralog of this gene is CACNA1D.
UniProtKB/Swiss-Prot for SCN8A 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. In macrophages and melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation.
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.