Entrez Summary: This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
Ion trans
Na trans assoc
DUF3451
GO Terms
voltage-gated sodium channel complex
node of Ranvier
voltage-gated sodium channel activity
axon initial segment
neuronal action potential
membrane depolarization during action potential
voltage-gated ion channel activity
membrane depolarization
transmission of nerve impulse
peripheral nervous system development
sodium ion transmembrane transport
action potential
myelination
ensheathment of neurons
axon ensheathment
Z disc
multicellular organismal signaling
sodium ion transport
cytoplasmic vesicle
axon
monovalent inorganic cation transport
regulation of membrane potential
regulation of ion transmembrane transport
inorganic cation transmembrane transport
regulation of transmembrane transport
cation transmembrane transport
metal ion transport
inorganic ion transmembrane transport
regulation of ion transport
cation transport
ion transmembrane transport
transmembrane transport
ion transport
nervous system process
ATP binding
regulation of transport
system process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)