Primary Identifier | MGI:98249 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 20269 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calmodulin binding activity; sodium ion binding activity; and voltage-gated sodium channel activity. Involved in behavioral response to pain. Located in membrane and sarcoplasm. Is expressed in gut; heart; and nervous system. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 62 and familial focal epilepsy with variable foci 4. Orthologous to human SCN3A (sodium voltage-gated channel alpha subunit 3). PHENOTYPE: Homozygous mutation of this gene results in lethality of most mutants by weaning. Heterozygous mice exhibit improved glucose tolerance. [provided by MGI curators] |