Recombinant Human Voltage-dependent L-type calcium channel subunit alpha-1F (CACNA1F), partial

1. CaV1.4 channels are indeed modulated by PKA phosphorylation within the inhibitor of Ca(2+)-dependent inactivation (ICDI) motif. PMID: 27456671
2. These two cases demonstrate the clinical overlap between Leber congenital amaurosis and type 2 congenital stationary night blindness in infants and young children. Genetic testing is an essential tool in these cases and provides a more accurate diagnosis and prognosis for patients with inherited retinal degenerative disorders. PMID: 29062221
3. 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. PMID: 28002560
4. 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. PMID: 27226626
5. 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. PMID: 26436388
6. novel heterozygous missense mutation (c.1555C>T, p.R519W) in CACNA1F gene, which is probably associated with XLRP. PMID: 26075273
7. analysis of Cav1.4 complexes alpha11.4, beta2, and alpha2delta4 in HEK293T cells and in mouse retina PMID: 25468907
8. 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. PMID: 24163243
9. Mutation in Cav1.4 gene is associated with congenital stationary night blindness type 2. PMID: 24796500
10. 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. PMID: 24124559
11. 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. PMID: 23714322
12. Mutations in Ca(v)1.4 alpha1 are associated with X-linked retinal disorders. PMID: 23219801
13. This is the first case report describing outer retinal structural anomaly consistent with abnormal bipolar cell synapses in CACNA1F-related disease. PMID: 22744390
14. 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). PMID: 22936811
15. 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). PMID: 22735794
16. A novel p.Gly603Arg mutation in CACNA1F causes Aland island eye disease and incomplete congenital stationary night blindness phenotypes in a Canadian family. PMID: 22194652
17. 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. PMID: 21920492
18. comprehensive mutation analyses in the 48 CACNA1F exons in 36 families, most of them from Germany PMID: 12111638
19. Novel nonsense mutation detected in exon 7 occurs after the predicted fifth transmembrane domain, deleting part of domain I and all of domains II, III,IV, the EF-hand motif and cytoplasmic C-terminus. PMID: 12552565
20. A novel mutation in the CACNA1F gene adds further support to the contention that CSNB2 represents a genetically distinct retinal disorder of a calcium channel. PMID: 12719097
21. The biophysical and pharmacological properties of human retinal Cav1.4alpha1 using the whole-cell patch-clamp technique after heterologous expression in tsA-201 cells were compared with other L-type alpha1 subunits PMID: 12853422
22. These findings indicate that a mutation of the CACNA1F gene may be associated with retinal and optic disc atrophy with a progressive decline of visual function. PMID: 12860808
23. L-type Ca2+ channel plays a significant role in the Ca2+ influx pathways mediating T lymphocyte activation and proliferation PMID: 12954628
24. Introduction of base pair changes associated with four incomplete X-linked congenital night blindness mutations showed that only the G369D alteration affected channel activation properties. Ca(v)1.4 was found widely expressed outside the retina PMID: 14973233
25. Our data provide unequivocal evidence that congenital stationary night blindness type 2 missense mutations can induce severe changes in Ca(v)1.4 function. PMID: 15634789
26. In a pool of eight diagnosed XLCSNB (X-linked congenital stationary night blindness) patients, five showed a sequence variation in the CACNA1F and two in the NYX gene. PMID: 15761389
27. Molecular analyses, reported separately, identified a novel I745T CACNA1F mutation that was associated in vitro with major alterations in gating and kinetics of the Ca(v)1.4 channel. PMID: 15807819
28. A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. PMID: 15897456
29. Cav1.4 encodes a calcium channel with low open probability and unitary conductance PMID: 16085774
30. The clinical phenotype of R508Q and L1364H night blindness mutations is unlikely to be explained by changes in channel gating. Instead, these mutations affect the protein expression of Ca(v)1.4 Ca(2+) channels. PMID: 16476079
31. X linked cone-rod dystrophy (CORDX3), is caused by a mutation in CACNA1F. PMID: 16505158
32. The present study clearly indicates that AIED (Aland Island eye disease) is also caused by a novel CACNA1F gene mutation. PMID: 17525176
33. Testing confirms the diagnosis at the molecular level and allows for a more precise prognosis of the possible future clinical evolution PMID: 17651254
34. These findings suggest that the pathology of CSNB-2 in patients with these missense mutations in the Ca(v)1.4 calcium channel is the result in either a gain of function (F742C) or a loss of function (G1007R, R1049W). PMID: 17949918
35. Temperature dependence of Cav1.4 calcium channel gating. PMID: 18206315

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HGNC: 1393

OMIM: 300071

KEGG: hsa:778

STRING: 9606.ENSP00000365441

UniGene: Hs.632799