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CACNA1F encodes a member of the alpha-1 subunit family; a protein in the voltage-dependent calcium channel complex. Additionally we are shipping Calcium Channel, Voltage-Dependent, L Type, alpha 1F Subunit Proteins (7) and Calcium Channel, Voltage-Dependent, L Type, alpha 1F Subunit Kits (3) and many more products for this protein.
Showing 10 out of 26 products:
Human Polyclonal CACNA1F Primary Antibody for IHC, WB - ABIN350143
Jalkanen, Bech-Hansen, Tobias, Sankila, Maentyjaervi, Forsius, de la Chapelle, Alitalo: A novel CACNA1F gene mutation causes Aland Island eye disease. in Investigative ophthalmology & visual science 2007
Show all 5 references for ABIN350143
Human Polyclonal CACNA1F Primary Antibody for ELISA, WB - ABIN560136
Mizutani, Yamamura, Muramatsu, Kiyota, Nishimura, Suzuki, Ohya, Imaizumi: Spontaneous and nicotine-induced Ca2+ oscillations mediated by Ca2+ influx in rat pinealocytes. in American journal of physiology. Cell physiology 2014
CACNA1F exhibited small spot-like staining beneath the RIM2 (show RIMS2 Antibodies) and RIBEYE (show CTBP2 Antibodies) structures.
analysis of Cav1.4 complexes alpha11.4, beta2, and alpha2delta4 in HEK293T cells and in mouse retina
CaBP4 (show CABP4 Antibodies) forms a collapsed structure around the IQ motif in Cav1.4 that may promote channel activation by disrupting an interaction between IQ and the inhibitor of Ca(2 (show CA2 Antibodies)+)-dependent inactivation domain
the importance of proper Cav (show CA5A Antibodies) 1.4 function for efficient PR synapse maturation, and that dysregulation of Cav (show CA5A Antibodies) 1.4 channels in CSNB2 may have synaptopathic consequences
model for vision impairment with Cav1.4 mutation
Data on Cav1.4 deficient mice and human female carriers of mutations in CACNA1F are consistent with a phenotype of mosaic congenital stationary night blindness type 2A.
In the absence of the CaV1.4 channel, photoreceptor synapses remain immature and are unable to stabilize.
Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2 (show CA2 Antibodies)+ channels by Ca2 (show CA2 Antibodies)+-binding protein 4 (CaBP4 (show CABP4 Antibodies)).
Proper targeting of synaptic proteins and PMCAs to photoreceptor terminals requires adequate expression of Cav1.4 subunit.
Cacna1f ( G305X ) is a true knockout model for human congenital stationary night blindness 2 (CSNB2), with prominent defects in cone and rod function. Cacna1f ( nob2 ) is an incomplete knockout model for CSNB2.
These findings in the Cacna1f-mutant mouse reveal that the Ca(v)1.4 calcium channel is vital for the functional assembly and/or maintenance and synaptic functions of photoreceptor ribbon synapses.
Studies indicate a role for L-type calcium channel Cav1.3 and Cav1.4 in cochlear inner hair cells (IHCs) and retinal photoreceptors (PRs).
a single nucleotide change c.1555C>T in exon 13 of the CACNA1F gene, leading to the substitution of arginine by tryptophan (p.R519W) in a Chinese individual affected by retinitis pigmentosa, is identified.
novel heterozygous missense mutation (c.1555C>T, p.R519W) in CACNA1F gene, which is probably associated with XLRP.
Mutation in Cav1.4 gene is associated with congenital stationary night blindness type 2.
Our data independently confirm CACNA1F as the causative gene for CORDX3-like phenotypes and detailed clinical characterization of the family expands the knowledge about the phenotypic spectrum of deleterious CACNA1F alterations.
In 55 male patients with Congenital Stationary Night Blindness 2, we identified 26 pathogenic sequence changes in the CACNA1F gene. Seventeen of these were novel, 14 of these mutations were nonsense or frameshift mutations, and 3 were missense mutations.
This is the first case report describing outer retinal structural anomaly consistent with abnormal bipolar cell synapses in CACNA1F-related disease.
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).
calcium channel, voltage-dependent, L type, alpha 1F subunit
, voltage-dependent L-type calcium channel subunit alpha-1F-like
, L-type dihydropyridine-sensitive calcium channel alpha-1f subunit
, voltage-dependent L-type calcium channel subunit alpha-1F
, voltage-gated calcium channel subunit alpha Cav1.4
, calcium channel, voltage-dependent, alpha 1F subunit