| Primary Identifier | MGI:103301 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 12298 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels. Involved in regulation of synaptic vesicle exocytosis. Acts upstream of or within several processes, including adult walking behavior; cellular response to leukemia inhibitory factor; and hematopoietic or lymphoid organ development. Part of voltage-gated calcium channel complex. Is active in glutamatergic synapse. Is expressed in brain; heart; and urinary system. Human ortholog(s) of this gene implicated in dilated cardiomyopathy; episodic ataxia; episodic ataxia type 5; and idiopathic generalized epilepsy 9. Orthologous to human CACNB4 (calcium voltage-gated channel auxiliary subunit beta 4). PHENOTYPE: Homozygous mutants have lethargic behavior, unstable gait and seizures, with peripheral motor nerves showing reduced conduction velocity and prolonged distal latency. [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
