Genomes and Genes
Gene Symbol: Cacna1f
Description: calcium voltage-gated channel subunit alpha1 F
Alias: voltage-dependent L-type calcium channel subunit alpha-1F, calcium channel, voltage-dependent, L type, alpha 1F subunit, calcium channel, voltage-dependent, alpha 1F subunit
- Jalkanen R, Mantyjarvi M, Tobias R, Isosomppi J, Sankila E, Alitalo T, et al. X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. J Med Genet. 2006;43:699-704 pubmed..4-q13.1. We aimed to identify the causative gene behind the CORDX3 phenotype. All 48 exons of the CACNA1F gene were screened for mutations by DNA sequencing...
- Catterall W. Voltage-gated calcium channels. Cold Spring Harb Perspect Biol. 2011;3:a003947 pubmed publisher..This article presents the molecular relationships and physiological functions of these Ca(2+) channel proteins and provides information on their molecular, genetic, physiological, and pharmacological properties. ..
- An J, Zhang L, Jiao B, Lu F, Xia F, Yu Z, et al. Cacna1f gene decreased contractility of skeletal muscle in rat model with congenital stationary night blindness. Gene. 2015;562:210-9 pubmed publisherThe CACNA1F gene encodes a member of the alpha-1F subunit family in the voltage-dependent calcium channel (Cav1.4) complex. Mutations in this gene result in incomplete congenital stationary night blindness (iCSNB2) in humans. And Cav1...
- Haeseleer F, Williams B, Lee A. Characterization of C-terminal Splice Variants of Cav1.4 Ca2+ Channels in Human Retina. J Biol Chem. 2016;291:15663-73 pubmed publisher..We conclude that exon 47 encodes structural determinants that regulate CDI and voltage-dependent activation of Cav1.4, and is necessary for modulation of channel activation by CaBP4. ..
- Tremblay F, LaRoche R, De Becker I. The electroretinographic diagnosis of the incomplete form of congenital stationary night blindness. Vision Res. 1995;35:2383-93 pubmed..We propose that the defect, which interferes marginally with the neuronal flow of information, lies in the structures responsible for the building of the b-wave. ..
- Witkovsky P, Shen C, McRory J. Differential distribution of voltage-gated calcium channels in dopaminergic neurons of the rat retina. J Comp Neurol. 2006;497:384-96 pubmed..Our findings are consistent with the available pharmacological data indicating that alpha1A and alpha1B calcium channels control the major fraction of dopamine release in the rat retina. ..