Description
Product Characteristics:
Cav2.1 is a voltage-sensitive calcium channels (VSCC) which belongs to the calcium channel alpha-1 subunit family. Cav2.1 mediates the entry of calcium ions into excitable cells and is also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. Cav2.1 (isoform alpha-1A) gives rise to P and/or Q-type calcium currents. Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity.
Subcellular location: Cell membrane
Synonyms: APCA, BI, Brain calcium channel 1, Brain calcium channel I, Cach4, Cacn3, Cacna1a, Cacnl1a4, Calcium channel alpha 1A subunit, Calcium channel L type alpha 1 polypeptide, Calcium channel L type alpha-1 polypeptide isoform 4, Calcium channel voltage dependent, P/Q type alpha 1A subunit, CAV2.1, EA2, FHM, HPCA, MHP, MHP1, RAT brain class A, RBA-I, SCA6, Voltage-dependent P/Q-type calcium channel alpha-1A subunit, Voltage-gated calcium channel alpha subunit Cav2.1, CAC1A_HUMAN.
Target 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 (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, Mar 2010]