| Primary Identifier | MGI:1929813 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 56808 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables voltage-gated calcium channel activity. Involved in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane. Acts upstream of or within several processes, including neuromuscular junction development; positive regulation of organ growth; and rhythmic synaptic transmission. Part of voltage-gated calcium channel complex. Is active in GABA-ergic synapse and presynaptic active zone membrane. Is expressed in several structures, including central nervous system; genitourinary system; heart; lip; and retina. Used to study epilepsy and idiopathic generalized epilepsy. Orthologous to human CACNA2D2 (calcium voltage-gated channel auxiliary subunit alpha2delta 2). PHENOTYPE: Homozygotes for different mutant alleles show variable movement abnormalities including waddling, reeling or very slow gait, ataxia, and mild spike-wave seizures. While gross CNS abnormalities and demyelination are present in some mutant lines, they are not observed in others. [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
