| Primary Identifier | MGI:88295 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 12293 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable voltage-gated calcium channel activity. Predicted to contribute to voltage-gated calcium channel activity involved in bundle of His cell action potential. Acts upstream of or within regulation of calcium ion transport. Located in T-tubule and sarcoplasmic reticulum. Part of voltage-gated calcium channel complex. Is active in GABA-ergic synapse; neuronal dense core vesicle; and presynaptic active zone membrane. Is expressed in several structures, including central nervous system; heart; skeletal musculature; trigeminal nerve; and urinary system. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 110. Orthologous to human CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1). PHENOTYPE: Mice with a point mutation allele exhibit abnormal CNS synaptic transmission and decreased response to pregabalin. [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
