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CACNA1A calcium voltage-gated channel subunit alpha1 A

Gene ID: 773, updated on 8-Dec-2022
Gene type: protein coding
Also known as: BI; EA2; FHM; MHP; APCA; HPCA; MHP1; SCA6; DEE42; CAV2.1; EIEE42; CACNL1A4

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 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2017-05-21)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2017-05-21)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
19p13.13
Sequence:
Chromosome: 19; NC_000019.10 (13206442..13506479, complement)
Total number of exons:
49

Links

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