| Gene Symbol | CACNA1A |
| Entrez Gene ID | 773 |
| Full Name | calcium voltage-gated channel subunit alpha1 A |
| Synonyms | APCA,BI,CACNL1A4,CAV2.1,EA2,EIEE42,FHM,HPCA,MHP,MHP1,SCA6 |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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]. |
| Disorder MIM: | |
| Disorder Html: | Migraine, familial hemiplegic, 1, 141500 (3); Episodic ataxia, type 2, 108500 (3); Spinocerebellar ataxia 6, 183086 (3); Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3); Epileptic encephalopathy, early infantile, 42, 617106 (3) |
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