Sodium channel protein type 8 subunit alpha

Definition:

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.; [Isoform 5]: In macrophages and melanoma cells, may participate in the control of podosome and invadopodia formation.

References:

[1]. Jacy L Wagnon, et al. Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus. Hum Mutat. 2018 Jul;39(7):965-969. [Content Brief]

[2]. Michael D Carrithers, et al. Regulation of podosome formation in macrophages by a splice variant of the sodium channel SCN8A. J Biol Chem. 2009 Mar 20;284(12):8114-26. [Content Brief]

[3]. Andrew E Fry, et al. Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy. Am J Hum Genet. 2021 Jan 7;108(1):176-185. [Content Brief]

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