protein 799 words KG: SCN4APROTEIN
Contents

SCN4A Protein (Nav1.4)

🔬 Protein Info
Gene SymbolSCN4A
Full NameSodium Voltage-Gated Channel Alpha Subunit 4
AliasesNav1.4
Chromosome17q23.3
Protein TypeVoltage-gated sodium channel (Nav channel)
Functionis a canonical excitability gene with well-established disease associations in periodic paralysis and nondystrophic myotonia[@cannon2018][@ptacek2000][@cannon2010].
Primary Expressionskeletal muscle, research has revealed important connections to neurodegenerative diseases[@waerman2020][@finsterer2019][@van2010]:
Subcellular Localization</b></td><td>Plasma Membrane (Skeletal Muscle)</td></tr>
Molecular Weight260 kDa
UniProt IDQ9UQD0 (Nav1.4)
NCBI Gene ID6328
Ensembl IDENSG00000007314
GeneCardsSCN4A
Human Protein AtlasSCN4A
Four voltage-sensing domains (VSD)Each domain contains a positively charged S4 helix that moves in response to membrane depolarization
Associated DiseasesAtaxia, Ms, Parkinson
KG Connections16 knowledge graph edges
DatabasesGeneCardsHPASTRING

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