SCN4A (NM_000334) - sodium voltage-gated channel alpha subunit 4
Sodium Channel Protein Type 4 Subunit Alpha
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Protein 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].
Publication Note:
This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Evidence data:
Transcript exon combination :: M81758.1, AY212253.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350]
- Strand
- -
- Chromosome
- 17
- Protein
- 1836 residues
- All mutations
- 627
- PTM sites
- 3
- CDS
- 62,018,130 - 62,050,201
- Transcription
- 62,015,913 - 62,050,278
Usage summary
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PTM site
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Kinase, PTM site or protein
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