Gene Symbol | SCN4A |
Entrez Gene ID | 6329 |
Full Name | sodium voltage-gated channel alpha subunit 4 |
Synonyms | CMS16,HOKPP2,HYKPP,HYPP,NAC1A,Na(V)1.4,Nav1.4,SkM1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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 expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Hyperkalemic periodic paralysis, type 2, 170500 (3); Paramyotonia congenita, 168300 (3); Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3); Myasthenic syndrome, congenital, 16, 614198 (3); Hypokalemic periodic paralysis, type 2, 613345 (3) |