| Protein Name | sodium channel, voltage-gated, type II, alpha |
|---|---|
| Organism | Mus musculus |
| Gene ID | 110876 |
| Gene Symbol | Scn2a |
| UniProt | B1AWN6 (SCN2A_MOUSE), A0A5H1ZRM8 (A0A5H1ZRM8_MOUSE) |
| Relationships |
Total Number of functionally related compound(s) :
42
Total Number of Articles : 40 |
Description |
sodium channel, voltage-gated, type II, alpha |
| Gene Summary |
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels 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. In humans, variants of this gene are associated with seizure disorders and autism spectrum disorder. Mice homozygous for a knockout mutation die with severe hypoxia and extensive neuronal cell death, while gain of function mutations result in progressive seizure disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016] |
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| Properties | |