Cacna1f

Summary

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
Species: rat
Products:     Cacna1f

Top Publications

  1. Morgans C, Gaughwin P, Maleszka R. Expression of the alpha1F calcium channel subunit by photoreceptors in the rat retina. Mol Vis. 2001;7:202-9 pubmed
    The CACNA1F gene encodes a voltage-gated calcium channel alpha1 subunit, alpha1F, which is expressed in the human retina. Mutations in this gene cause incomplete X-linked congenital stationary night blindness (CSNB2)...
  2. Gu Y, Wang L, Zhou J, Guo Q, Liu N, Ding Z, et al. A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness. Mol Vis. 2008;14:20-8 pubmed
    ..Rat orthologous genes for Nyx and Cacna1f were isolated from retina through rapid amplification the cDNA ends (RACE) and examined for mutations...
  3. Strom T, Nyakatura G, Apfelstedt Sylla E, Hellebrand H, Lorenz B, Weber B, et al. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat Genet. 1998;19:260-3 pubmed
    ..23 between markers DXS722 and DXS255. We identified a retina-specific calcium channel alpha1-subunit gene (CACNA1F) in this region, consisting of 48 exons encoding 1966 amino acids and showing high homology to L-type calcium ..
  4. Bech Hansen N, Naylor M, Maybaum T, Pearce W, Koop B, Fishman G, et al. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nat Genet. 1998;19:264-7 pubmed
    ..Mutation analysis of this new alpha1-subunit gene, CACNA1F, in 20 families with incomplete CSNB revealed six different mutations that are all predicted to cause premature ..
  5. Mansergh F, Orton N, Vessey J, Lalonde M, Stell W, Tremblay F, et al. Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina. Hum Mol Genet. 2005;14:3035-46 pubmed
    ..For example, mutations in the calcium channel subunit gene CACNA1F cause incomplete X-linked congenital stationary night blindness (CSNB2 or iCSNB), a human retinal disorder with ..
  6. Wutz K, Sauer C, Zrenner E, Lorenz B, Alitalo T, Broghammer M, et al. Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. Eur J Hum Genet. 2002;10:449-56 pubmed
    ..We recently identified the retina-specific L-type calcium channel alpha1 subunit gene CACNA1F localised to the Xp11.23 region, which is mutated in families showing the incomplete type (CSNB2)...
  7. Hemara Wahanui A, Berjukow S, Hope C, Dearden P, Wu S, Wilson Wheeler J, et al. A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. Proc Natl Acad Sci U S A. 2005;102:7553-8 pubmed
    ..The Ca(v)1.4 channel is thought to be involved in this process. The CACNA1F gene encodes the poreforming subunit of the Ca(v)1...
  8. An J, Wang L, Guo Q, Li L, Xia F, Zhang Z. Behavioral phenotypic properties of a natural occurring rat model of congenital stationary night blindness with Cacna1f mutation. J Neurogenet. 2012;26:363-73 pubmed publisher
    b>Cacna1f gene mutation could lead to incomplete congenital stationary night blindness (iCSNB) disease. The CSNB-like phenotype rat is a spontaneous rat model caused by Cacna1f gene mutation...
  9. Tao Y, Chen T, Liu B, Xue J, Zhang L, Xia F, et al. Visual signal pathway reorganization in the Cacna1f mutant rat model. Invest Ophthalmol Vis Sci. 2013;54:1988-97 pubmed publisher
    ..CSNB) by examining the characteristics of electrical signal transmission within the inner retinal circuit after Cacna1f gene mutation...

More Information

Publications15

  1. 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...
  2. 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. ..
  3. 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 publisher
    The 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...
  4. 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. ..
  5. 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. ..
  6. 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. ..