CACNA1A

(redirected from Cav2.1)

CACNA1A

A gene on chromosome 19p13 that encodes the alpha-1A subunit of a voltage-dependent P/Q-type calcium channel, which mediates the entry of calcium ions into excitable cells. These channels are also involved in various calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and apoptosis.

Molecular pathology
CACNA1A mutations are associated with familial hemiplegic migraine and episodic ataxia 2.
Mentioned in ?
References in periodicals archive ?
Human neuronal stargazin-like proteins, gamma2, gamma3 and gamma4; an investigation of their specific localization in human brain and their influence on CaV2.1 voltage-dependent calcium channels expressed in Xenopus oocytes.
Mice with a selective deletion of Cav2.1 in PCs show an impaired heterosynaptic competition between PFs and CFs on PCs, which leads to hyperspiny transformation and chaotic innervation by multiple CFs and numerous PFs in proximal somatodendritic domains of PCs, and progressive degeneration of PCs [16].
Cav2.1 channels control multivesicular release by relying on their distance from exocytotic Ca2+ sensors at rat cerebellar granule cells.
SCA6 is correlated with a mutation in the voltage-dependent calcium channel P/Q type, alpha 1a subunit on the 19p13 chromosome (CACNA1A; CaV2.1).
PRKCZ (potein kinase C, zeta), EDNRB (endothelin receptor type B), CDK5 (cell division protein kinase 5), and CACNA1A (cav2.1 P/Q voltage-dependent calcium channel) were related to nervous system diseases.
Role of lipid microdomains in P/Q-type calcium channel (Cav2.1) clustering and function in presynaptic membranes.
Itsukaichi et al., "Direct interaction and functional coupling between metabotropic glutamate receptor subtype 1 and voltage-sensitive Cav2.1 [Ca.sup.2+] channel," Journal of Biological Chemistry, vol.
Panasiti etal., "Pain sensitivityin mice lacking the Cav2.1 a1 subunit of P/Q-type [Ca.sup.2+] channels," Neuroscience, vol.