| Primary Identifier | MGI:98247 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 20266 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables sodium channel inhibitor activity. Involved in several processes, including membrane depolarization during cardiac muscle cell action potential; regulation of sodium ion transport; and regulation of ventricular cardiac muscle cell membrane repolarization. Acts upstream of or within several processes, including corticospinal neuron axon guidance; neuronal action potential propagation; and positive regulation of neuron projection development. Located in T-tubule; intercalated disc; and node of Ranvier. Part of voltage-gated sodium channel complex. Is expressed in heart and telencephalon. Used to study generalized epilepsy with febrile seizures plus. Human ortholog(s) of this gene implicated in Brugada syndrome 5; developmental and epileptic encephalopathy 52; familial atrial fibrillation; and generalized epilepsy with febrile seizures plus 1. Orthologous to human SCN1B (sodium voltage-gated channel beta subunit 1). PHENOTYPE: Homozygous inactivation of this locus results in defects in neuronal excitability, and nodal architecture. Homozygous null mice are growth retarded, exhibit spontaneous generalized seizuress, and die prior to weaning. [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
