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SCN2A / Nav1.2
sodium channel, voltage-gated, type II, alpha subunit
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is heterogeneously expressed in the brain, and mutations in this gene have been linked to several seizure disorders. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.
| Gene Name: | sodium channel, voltage-gated, type II, alpha subunit |
| Family/Subfamily: | Ion Channel , Sodium channel - voltage-gated |
| Synonyms: | SCN2A, Brain sodium channel type II, BFIC3, BFNIS, EIEE11, HBSC II, HBSCI, Na(v)1.2, NachII, SCN2A2, ScpII, BFIS3, HBA, HBSCII, NAC2, Nav1.2, RNSCPIIR, SCN2A1 |
| Target Sequences: | NM_021007 NP_066287.2 Q99250 |
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