Tissue expression
Cell line expression
Protein structure
CACNA1A
Calcium voltage-gated channel subunit alpha1 AAPCA, CACNL1A4, Cav2.1, EA2, FHM, HPCA, MHP, MHP1, SCA6
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]
Top validated antibodies |
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antibodies-online | ABIN1742171 | 3 references | Polyclonal |
WB
IHC |
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Invitrogen Antibodies | PA5-50634 | 1 references | Polyclonal |
IHC
OA |
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GeneTex | GTX54753 | Polyclonal |
WB
ICC
IHC
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Cusabio Biotech Co., Ltd | CSB-PA004397LA01HU | Polyclonal |
EL
ICC
IHC
|
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Biorbyt | orb687032 | Polyclonal |
EL
ICC
IHC
|
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