| Primary Identifier | MGI:98251 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 20271 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables scaffold protein binding activity; ubiquitin protein ligase binding activity; and voltage-gated sodium channel activity involved in SA node cell action potential. Involved in sodium ion transmembrane transport. Acts upstream of or within cardiac ventricle development; regulation of heart contraction; and response to organic cyclic compound. Located in several cellular components, including T-tubule; intercalated disc; and lateral plasma membrane. Part of sodium channel complex. Is expressed in several structures, including central nervous system; gut; heart; sensory organ; and skeleton. Used to study Brugada syndrome 1; dilated cardiomyopathy 1E; long QT syndrome 3; progressive familial heart block type IA; and sick sinus syndrome. Human ortholog(s) of this gene implicated in heart conduction disease (multiple); intrinsic cardiomyopathy (multiple); and sudden infant death syndrome. Orthologous to human SCN5A (sodium voltage-gated channel alpha subunit 5). PHENOTYPE: Mice homozygous for mutations in this gene die prenatally usually during organogenesis and may display decreased embryo size and abnormal cardiovascular system physiology. Heterozygous mice typically display abnormal heartbeats and defects in the function of the impulse conduction system. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
