gene 1,353 words KG: SCN4A 2026-03-21
kind:genesection:genesstate:published
Contents

SCN4A Gene

🧬 Gene 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]:
Molecular Weight260 kDa
UniProt IDQ9UQD0 (Nav1.4)
NCBI Gene ID6328
Ensembl IDENSG00000007314
GeneCardsSCN4A
Human Protein AtlasSCN4A
Protein ClassVoltage-gated sodium channel (Nav channel)
Variant TypeEffect
Associated DiseasesAtaxia, Ms, Parkinson
KG Connections17 knowledge graph edges
DatabasesGeneCardsHPASTRING

Knowledge Graph