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Calcium channel, voltage-dependent, L type, alpha 1F subunit

CACNA1F, CSNB2, JM8, OA2, Cav1.4
This gene encodes a member of the alpha-1 subunit family; a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been shown to cause incomplete X-linked congential stationary night blindness type 2 (CSNB2). [provided by RefSeq, Feb 2012] (from NCBI)
Top mentioned proteins: HAD, ROD, CAN, CIs, WAVE
Papers on CACNA1F
Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.
Zhang et al., In Invest Ophthalmol Vis Sci, Jan 2016
Of the 71 probands, 44 (62.0%) had mutations in 11 genes responsible for ocular diseases accompanied by high myopia, including COL2A1, COL11A1, PRPH2, FBN1, GNAT1, OPA1, PAX2, GUCY2D, TSPAN12, CACNA1F, and RPGR.
RIM1/2-Mediated Facilitation of Cav1.4 Channel Opening Is Required for Ca2+-Stimulated Release in Mouse Rod Photoreceptors.
Schmitz et al., Homburg, Germany. In J Neurosci, Oct 2015
Night blindness can result from impaired photoreceptor function and a subset of cases have been linked to dysfunction of Cav1.4 calcium channels and in turn compromised synaptic transmission.
A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness.
Miyadera et al., Tsu, Japan. In Plos One, 2014
Three remaining genes were excluded based on sequencing the open reading frame and intron-exon boundaries (RHO, NYX), causal to a different form of CSNB (RHO) or X-chromosome (NYX, CACNA1F) location.
Voltage-Gated Cav1 Channels in Disorders of Vision and Hearing.
Lee et al., Iowa City, United States. In Curr Mol Pharmacol, 2014
Genetic evidence from animal models and humans support a role for Cav1.3 and Cav1.4 as the primary Cav channels in IHCs and PRs, respectively.
TMEM16A is associated with voltage-gated calcium channels in mouse retina and its function is disrupted upon mutation of the auxiliary α2δ4 subunit.
Gargini et al., Pisa, Italy. In Front Cell Neurosci, 2014
Heterologous expression of these channels in tsA-201 cells showed that TMEM16A associates with the CaV1.4 subunit, and the association persists upon expression of the mutant α2δ4 subunit.
Establishment and rapid detection of a heterozygous missense mutation in the CACNA1F gene by ARMS technique with double-base mismatched primers.
Fu et al., China. In Genet Mol Res, 2014
Mutations of more than 50 genes have been identified as associated with RP, including the CACNA1F gene.
Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness.
Zhang et al., Guangzhou, China. In Int J Mol Med, 2012
The results expand the mutation spectrum of NYX, CACNA1F and GRM6. They also suggest that NYX mutations are a common cause of congenital stationary night blindness (CSNB).
Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa.
Tsang et al., New York City, United States. In Am J Ophthalmol, 2012
Congenital stationary night blindness (CSNB2) patients had significantly thinner retinas than myopic controls; and demonstrated qualitatively normal SD OCT and FAF images, and therefore can be differentiated from retinitis pigmentosa patients.
Trafficking of presynaptic PMCA signaling complexes in mouse photoreceptors requires Cav1.4 α1 subunits.
Križaj et al., Salt Lake City, United States. In Adv Exp Med Biol, 2011
Proper targeting of synaptic proteins and PMCAs to photoreceptor terminals requires adequate expression of Cav1.4 subunit.
The Ca(v)1.4 calcium channel is a critical regulator of T cell receptor signaling and naive T cell homeostasis.
Jefferies et al., Vancouver, Canada. In Immunity, 2011
Ca(V)1.4 functions in controlling naive T cell homeostasis and antigen-driven T cell immune responses
A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.
Héon et al., Toronto, Canada. In Mol Vis, 2010
A novel p.Gly603Arg mutation in CACNA1F causes Aland island eye disease and incomplete congenital stationary night blindness phenotypes in a Canadian family.
Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels.
Koschak et al., Innsbruck, Austria. In Pflugers Arch, 2010
LTCC dysfunction can result from structural aberrations within their pore-forming alpha1 subunits causing hypokalemic periodic paralysis and malignant hyperthermia sensitivity (Cav1.1 alpha1), incomplete congenital stationary night blindness (CSNB2; Cav1.4 alpha1), and Timothy syndrome (Cav1.2
Agouti C57BL/6N embryonic stem cells for mouse genetic resources.
Skarnes et al., Cambridge, United Kingdom. In Nat Methods, 2009
We report the characterization of a highly germline competent C57BL/6N mouse embryonic stem cell line, JM8.
Unique disease heritage of the Dutch-German Mennonite population.
Bech-Hansen et al., Calgary, Canada. In Am J Med Genet A, 2008
Such studies in the Dutch-German Mennonite population have already contributed to the identification of the causative genes in several conditions such as the incomplete form of X-linked congenital stationary night blindness (CSNB2; previously iCSNB) and hypophosphatasia (HOPS), as well as the discovery of founder mutations within established disease genes (MYBPC1, CYP17alpha).
X-Linked Congenital Stationary Night Blindness
MacDonald et al., Seattle, United States. In Unknown Journal, 2008
Incomplete CSNB (CSNB2A), caused by mutations in CACNA1F (55%).
The Ca(v)1.4 calcium channel: more than meets the eye.
McRory et al., Calgary, Canada. In Channels (austin), 2007
channels, and implicated these mutations in human disorders such as X-linked cone rod dystrophy (CORDX3) and incomplete X-linked congenital stationary night blindness type 2 (CSNB2).
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.
Meindl et al., Tübingen, Germany. In Nat Genet, 2000
These two genetic subtypes can be distinguished on the basis of electroretinogram (ERG) responses and psychophysical testing as a complete (CSNB1) and an incomplete (CSNB2) form.
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
Boycott et al., Calgary, Canada. In Nat Genet, 1998
The apparent clinical heterogeneity in X-linked CSNB reflects the recently described genetic heterogeneity in which the locus for complete CSNB (CSNB1) was mapped to Xp11.4, and the locus for incomplete CSNB (CSNB2) was refined within Xp11.23 (ref.
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
Meindl et al., München, Germany. In Nat Genet, 1998
The locus for the incomplete form of X-linked congenital stationary night blindness (CSNB2) maps to a 1.1-Mb region in Xp11.23 between markers DXS722 and DXS255.
Carboplatin (Paraplatin; JM8) and etoposide (VP-16) as first-line combination therapy for small-cell lung cancer.
Ford et al., In J Clin Oncol, 1987
Fifty-two previously untreated patients with small-cell lung carcinoma (SCLC) were treated with a combination of carboplatin 300 mg/m2 intravenously (IV) on day 1 and etoposide 100 mg/m2 IV on days 1 through 3 every 28 days for four courses.
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