Gene: SCN3A

Alternate names for this Gene: EIEE62|FFEVF4|NAC3|Nav1.3

Gene 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, 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q24.3

Description of this Gene: sodium voltage-gated channel alpha subunit 3

Type of Gene: protein-coding

rs62174901 in SCN3A gene and Degenerative polyarthritis PMID 21871595 2011 A variant in MCF2L is associated with osteoarthritis.

rs755440336 in SCN3A gene and EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 PMID 28235671 2017 SCN3A deficiency associated with increased seizure susceptibility.

PMID 24157691 2014 Novel SCN3A variants associated with focal epilepsy in children.

rs1553517274 in SCN3A gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 PMID 29466837 2018 Mutations in SCN3A cause early infantile epileptic encephalopathy.