| Primary Identifier | MGI:109482 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 12286 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables high voltage-gated calcium channel activity and voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels. Acts upstream of or within several processes, including chemical synaptic transmission; modulation of chemical synaptic transmission; and nervous system development. Located in dendrite and neuronal cell body. Part of voltage-gated calcium channel complex. Is active in glutamatergic synapse; postsynaptic membrane; and presynaptic active zone membrane. Is expressed in several structures, including central nervous system; dorsal root ganglion; heart; and trigeminal nerve. Used to study Lambert-Eaton myasthenic syndrome; brain disease (multiple); and episodic ataxia type 2. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 42; hereditary ataxia (multiple); and migraine (multiple). Orthologous to human CACNA1A (calcium voltage-gated channel subunit alpha1 A). PHENOTYPE: Homozygotes for different mutant alleles are characterized by variably severe wobbly gait beginning prior to weaning, ataxia, episodic dyskinesia, cerebellar atrophy, and absence epilepsy. [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
