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CACNA1F encodes a member of the alpha-1 subunit family\; a protein in the voltage-dependent calcium channel complex.
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AED, iCSNB, and X-linked cone-rod dystrophy 3 are designations that refer to a broad, continuous spectrum of clinical appearances caused in the majority by a variety of mutations in CACNA1F.
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.
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.
analysis of Cav1.4 complexes alpha11.4, beta2, and alpha2delta4 in HEK293T cells and in mouse retina
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.
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.
CACNA1F exhibited small spot-like staining beneath the RIM2 and RIBEYE (zeige CTBP2 ELISA Kits) structures.
Results show that genetic deletion of the synaptic Cav1.4 L-type voltage-gated calcium channels impairs calpain activation and leads to a short-term preservation of photoreceptors in the rd1 mouse.
CaBP4 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 (zeige CA2 ELISA Kits)+)-dependent inactivation domain
the importance of proper Cav (zeige CA5A ELISA Kits) 1.4 function for efficient PR synapse maturation, and that dysregulation of Cav (zeige CA5A ELISA Kits) 1.4 channels in CSNB2 may have synaptopathic consequences
model for vision impairment with Cav1.4 mutation
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+ channels by Ca2+-binding protein 4 (CaBP4).
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.
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).
voltage-dependent L-type calcium channel subunit alpha-1F
, voltage-gated calcium channel subunit alpha Cav1.4
, calcium channel, voltage-dependent, alpha 1F subunit
, 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
, LOW QUALITY PROTEIN: voltage-dependent L-type calcium channel subunit alpha-1F