Protein Information
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 n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the 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 n-repeats which encode a polyglutamine tract. Expansion of the n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6.
Synonyms
alpha1A; APCA; BccA1; BI; brain calcium channel 1; brain calcium channel I; brain class A; Caca1a; Cach4; Cacn3; CACNA1A; Cacnl1a4; calcium channel alpha 1A; calcium channel, L type, alpha-1 polypeptide; Calcium channel, L type, alpha-1 polypeptide isoform 4; Calcium channel, L type, alpha-1 polypeptide, isoform 4; calcium channel, voltage-dependent, alpha 1A subunit; calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; calcium voltage-gated channel subunit alpha1 A; CAV2.1; Ccha1a; EA2; fetal brain Ca2+ voltage-gated channel alpha1A pore-forming subunit; FHM; HPCA; la; leaner; MHP; MHP1; nmf352; Rat brain class A; rbA-1; RBA-I; rkr; rocker; SCA6; tg; tottering; Voltage-dependent P/Q-type calcium channel subunit alpha-1A; voltage-gated calcium channel subunit alpha Cav2.1
