| CACNA1A |
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| Identifiers |
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| Aliases | CACNA1A, APCA, BI, CACNL1A4, CAV2.1, EA2, FHM, HPCA, MHP, MHP1, SCA6, Cav2.1, calcium voltage-gated channel subunit alpha1 A, EIEE42, DEE42 |
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| External IDs | OMIM: 601011; MGI: 109482; HomoloGene: 56383; GeneCards: CACNA1A; OMA:CACNA1A - orthologs |
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| Gene location (Mouse) |
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| | Chr. | Chromosome 8 (mouse) |
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| | Band | 8 C2- C3|8 40.95 cM | Start | 85,065,268 bp |
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| End | 85,366,875 bp |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - cerebellar hemisphere
- right hemisphere of cerebellum
- Brodmann area 23
- postcentral gyrus
- Pons
- primary visual cortex
- superior frontal gyrus
- endothelial cell
- middle temporal gyrus
- buccal mucosa cell
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| | Top expressed in | - cerebellar cortex
- superior frontal gyrus
- lobe of cerebellum
- cerebellar vermis
- primary visual cortex
- dentate gyrus of hippocampal formation granule cell
- Rostral migratory stream
- inferior colliculi
- primary motor cortex
- neural layer of retina
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| | More reference expression data |
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| BioGPS | |
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| Wikidata |
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Cav2.1, also called the P/Q voltage-dependent calcium channel, is a calcium channel found mainly in the brain. Specifically, it is found on the presynaptic terminals of neurons in the brain and cerebellum. Cav2.1 plays an important role in controlling the release of neurotransmitters between neurons. It is composed of multiple subunits, including alpha-1, beta, alpha-2/delta, and gamma subunits. The alpha-1 subunit is the pore-forming subunit, meaning that the calcium ions flow through it. Different kinds of calcium channels have different isoforms (versions) of the alpha-1 subunit. Cav2.1 has the alpha-1A subunit, which is encoded by the CACNA1A gene. Mutations in CACNA1A have been associated with various neurologic disorders, including familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6.