Anti-CACNA1A Antibody Picoband® HRP Conjugated

Cav2.1, also called the P/Q voltage-dependent calcium channel, is a calcium channel found mainly in the brain. 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.

CACNA1A; CACH4; CACN3; CACNL1A4; Voltage-dependent P/Q-type calcium channel subunit alpha-1A; Brain calcium channel I; BI; Calcium channel, L type, alpha-1 polypeptide isoform 4; Voltage-gated calcium channel subunit alpha Cav2.1

1. Ackerman, M. J., Clapham, D. E. Ion channels--basic science and clinical disease. New Eng. J. Med. 336: 1575-1586, 1997. Note: Erratum: New Eng. J. Med. 337: 579 only, 1997. 2. Alonso, I., Barros, J., Tuna, A., Coelho, J., Sequeiros, J., Silveira, I., Coutinho, P. Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. Arch. Neurol. 60: 610-614, 2003. 3. Barrett, C. F., Cao, Y.-Q., Tsien, R. W. Gating deficiency in a familial hemiplegic migraine type 1 mutant P/Q-type calcium channel. J. Biol. Chem. 280: 24064-24071, 2005.