Gene Symbol: Cacna2d4
Description: calcium channel, voltage-dependent, alpha 2/delta subunit 4
Alias: 5730412N02Rik, BE686333, voltage-dependent calcium channel subunit alpha-2/delta-4, voltage-gated calcium channel subunit alpha-2/delta-4
Obermair G, Kugler G, Baumgartner S, Tuluc P, Grabner M, Flucher B. The Ca2+ channel alpha2delta-1 subunit determines Ca2+ current kinetics in skeletal muscle but not targeting of alpha1S or excitation-contraction coupling. J Biol Chem. 2005;280:2229-37 pubmed
..However, this subunit is not essential for targeting of Ca(2+) channels or for their primary physiological role in activating skeletal muscle excitation-contraction coupling. ..
Schlick B, Flucher B, Obermair G. Voltage-activated calcium channel expression profiles in mouse brain and cultured hippocampal neurons. Neuroscience. 2010;167:786-98 pubmed publisher
..Developmental changes are likely determined by an intrinsic program and not regulated by changes in neuronal activity. ..
Bacchi N, Messina A, Burtscher V, Dassi E, Provenzano G, Bozzi Y, et al
. A New Splicing Isoform of Cacna2d4 Mimicking the Effects of c.2451insC Mutation in the Retina: Novel Molecular and Electrophysiological Insights. Invest Ophthalmol Vis Sci. 2015;56:4846-56 pubmed publisher
Mutations in CACNA2D4 exon 25 cause photoreceptor dysfunction in humans (c.2406Câ†’A mutation) and mice (c.2451insC mutation)...
Wang Y, Fehlhaber K, Sarria I, Cao Y, Ingram N, Guerrero Given D, et al
. The Auxiliary Calcium Channel Subunit α2δ4 Is Required for Axonal Elaboration, Synaptic Transmission, and Wiring of Rod Photoreceptors. Neuron. 2017;93:1359-1374.e6 pubmed publisher
..4 function, but is not required for ribbon organization, synaptogenesis, or synaptic transmission. These findings offer insights into retinal pathologies associated with α2δ4 dysfunction. ..
Ruether K, Grosse J, Matthiessen E, Hoffmann K, Hartmann C. Abnormalities of the photoreceptor-bipolar cell synapse in a substrain of C57BL/10 mice. Invest Ophthalmol Vis Sci. 2000;41:4039-47 pubmed
..The absent cone ERG may be due to the altered cone-on-bipolar synapses. The overall thinning of the retina as well as the moderately reduced scotopic a-wave amplitude remain unexplained. ..
Wycisk K, Budde B, Feil S, Skosyrski S, Buzzi F, Neidhardt J, et al
. Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation. Invest Ophthalmol Vis Sci. 2006;47:3523-30 pubmed
..Within this candidate interval, a homozygous frameshift mutation (c.2367insC) was identified in the Cacna2d4 gene of affected animals. This gene codes for an L-type calcium channel auxiliary subunit of the alpha2delta type...
Shibasaki M, Kurokawa K, Ohkuma S. Role of alpha2/delta subunit in the development of morphine-induced rewarding effect and behavioral sensitization. Neuroscience. 2009;163:731-4 pubmed publisher
Etemad S, Obermair G, Bindreither D, Benedetti A, Stanika R, Di Biase V, et al
. Differential neuronal targeting of a new and two known calcium channel ?4 subunit splice variants correlates with their regulation of gene expression. J Neurosci. 2014;34:1446-61 pubmed publisher