SCN3A gene

sodium voltage-gated channel alpha subunit 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

From UniProt:

Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient.

From NCBI Gene:

  • Early infantile epileptic encephalopathy 62
  • EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4

Cytogenetic Location: 2q24.3, which is the long (q) arm of chromosome 2 at position 24.3

Molecular Location: base pairs 165,087,520 to 165,204,295 on chromosome 2 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 2q24.3, which is the long (q) arm of chromosome 2 at position 24.3
  • EIEE62
  • FFEVF4
  • NAC3
  • Nav1.3