Aliases for SCN4A Gene
- Sodium Voltage-Gated Channel Alpha Subunit 4 2 3 5
- SkM1 2 3 4
- Sodium Channel, Voltage-Gated, Type IV, Alpha Subunit 2 3
- Sodium Channel Protein Skeletal Muscle Subunit Alpha 3 4
- Voltage-Gated Sodium Channel Subunit Alpha Nav1.4 3 4
- Sodium Channel Protein Type IV Subunit Alpha 3 4
- Sodium Channel Protein Type 4 Subunit Alpha 3 4
- Nav1.4 2 3
- HYPP 2 3
External Ids for SCN4A Gene
Previous HGNC Symbols for SCN4A Gene
Previous GeneCards Identifiers for SCN4A Gene
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]
GeneCards Summary for SCN4A Gene
SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4) is a Protein Coding gene. Diseases associated with SCN4A include Paramyotonia Congenita Of Von Eulenburg and Myotonia, Potassium-Aggravated. Among its related pathways are Neuroscience and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include ion channel activity and voltage-gated sodium channel activity. An important paralog of this gene is SCN2A.
UniProtKB/Swiss-Prot Summary for SCN4A Gene
Pore-forming subunit of a voltage-gated sodium channel complex through which Na(+) ions pass in accordance with their electrochemical gradient. Alternates between resting, activated and inactivated states (PubMed:12766226, PubMed:29992740, PubMed:30190309, PubMed:15318338, PubMed:16890191, PubMed:18690054, PubMed:17898326, PubMed:19347921, PubMed:25707578, PubMed:26700687). Required for normal muscle fiber excitability, normal muscle contraction and relaxation cycles, and constant muscle strength in the presence of fluctuating K(+) levels (PubMed:12766226, PubMed:15318338, PubMed:16890191, PubMed:19347921, PubMed:25707578, PubMed:26700687, PubMed:26659129).
Voltage-gated sodium channels (NaV) are responsible for action potential initiation and propagation in excitable cells, including nerve, muscle, and neuroendocrine cell types. They are also expressed at low levels in non-excitable cells, where their physiological role is unclear.