Description
Product Characteristics:
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.
Subcellular location: Cytoplasm
Synonyms: CerIII, hNa6/Scn8a voltage gated sodium channel, MED, Motor endplate disease, NaCh 6, NaCh6, Nav 1.6, Nbna1, PN 4, PN4, Scn8a, SCN8A_HUMAN, Sodium channel protein type 8 alpha subunit, Sodium channel protein type 8 subunit alpha, Sodium channel protein type VIII alpha subunit, Sodium channel protein type VIII subunit alpha, Sodium channel voltage gated type VIII alpha, Sodium channel voltage gated type VIII alpha polypeptide, Sodium channel voltage gated type VIII alpha subunit, Voltage gated sodium channel subunit alpha Nav1.6, Voltage-gated sodium channel subunit alpha Nav1.6.
Target Information: 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]