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Official Full Name: sodium voltage-gated channel alpha subunit 2
Also known as: EA9; HBA; NAC2; BFIC3; BFIS3; BFNIS; DEE11; HBSCI; EIEE11; HBSCII; Nav1.2; SCN2A1; SCN2A2; Na(v)1.2
Voltage-gated sodium channels are transmembrane glycoprotein complexes consisting of a large alpha subunit and four repeat domains, each consisting of six transmembrane segments, and one or more regulatory beta subunits . Voltage-gated sodium channels play a role in the generation and propagation of action potentials in neurons and muscles. This gene encodes a member of the sodium channel alpha subunit gene family. Allelic variants of this gene have been associated with epilepsy and autism spectrum disorders. Alternative splicing results in multiple transcript variants.
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