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SCN4A / Nav1.4
sodium channel, voltage-gated, type IV, alpha subunit
Scn4a encodes the alpha subunit of the type IV voltage-gated sodium channel. These channels, composed of one alpha and one or two beta subunits, mediate changes in cell permeability to sodium ions that are essential for the generation of action potentials. The alpha subunit alone can generate a functional channel in vitro >, but it's kinetic properties are modulated by beta subunits. The type IV channel is tetrodotoxin-sensitive. Mutations in the Scn4a gene have been shown to be responsible for hyperkalemic periodic paralysis, paramyotonia congenita and some forms of malignant hyperthermia.
| Gene Name: | sodium channel, voltage-gated, type IV, alpha subunit |
| Family/Subfamily: | Ion Channel , Sodium channel - voltage-gated |
| Synonyms: | SCN4A, HOKPP2, Mu1, NAC1A, Na(V)1.4, NCHVS, HSkM1, RSkM1, MH2, MicroI, SkM1, HYKPP, HYPP, Nav1.4 |
| Target Sequences: | NM_000334 NP_000325.4 P35499 |
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