| Entrez gene ID | | 773 |
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| Official gene symbol | | CACNA1A |
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| Full name | | calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
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| Aliases | | ,APCA,CACNL1A4,CAV2.1,EA2,FHM,HPCA,MHP,MHP1,SCA6, |
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| Gene summary | | Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq] |
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| Location | | Chromosome: 19 Locus: 19p13.2-p13.1 |
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| Gene position | | 13617274 - 13317256 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 300019 bp |
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| Gene sequence |
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| OMIM ID | | 601011 |
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