CACNA1C Antibody, Biotin conjugated

1. CACNA1C CpG-SNPs are associated with PTSD in traumatized police officers. PMID: 29362489
2. This study demonstrates that CaV1.2 moves in vesicular structures with circular and tubular shapes, exhibiting diverse intracellular and submembrane trafficking patterns. Both microtubules and actin filaments are required for the dynamic movement of CaV1.2 vesicles. These vesicles undergo constitutive homotypic fusion and fission events that sustain CaV1.2 clustering, channel activity, and cooperative gating. PMID: 29959960
3. CACNA1C polymorphism and childhood interpersonal trauma were linked to brain activation during group and emotion-specific processing. PMID: 29385621
4. A case-control study suggests that rs10848683 in CACAN1C increases susceptibility to large-artery atherosclerotic (LAA) stroke. The CC genotype of rs10848683 may be a risk factor for LAA stroke under recessive models. Haplotypes of rs229961-rs215976-rs216008-rs10848683 in CACAN1C also showed increased risk of LAA stroke. PMID: 29683785
5. miR-137 regulates the expression of the CACNA1C gene. PMID: 30102687
6. This study is the first to suggest the involvement of the novel missense CACNA1C c.1786G>A and TTN c.49415G>A variants in the inheritance of symptomatic bradycardia and the development of sick sinus syndrome. PMID: 29568937
7. MYH7-V878A and CACNA1C-A1594V mutations were detected in a Chinese family with hypertrophic cardiomyopathy. Individuals with only the CACNA1C-A1594V mutation showed nearly normal readings in all examinations. These findings suggest a cumulative effect in the pathogenesis of MYH7-V878A and CACNA1C-A1594V mutations. PMID: 28866666
8. This study established cognitive effects of risk variants at loci implicated in synaptic transmission by (1) identifying GWAS schizophrenia variants whose associated gene function is related to synaptic transmission, and (2) testing for association between these and measures of neurocognitive function. The study suggests that CACNA1C risk variant rs2007044 is associated with poorer memory function and cortical dysconnectivity. PMID: 28607492
9. Increased repolarization dispersion caused by the G1911R mutation is a primary factor that may contribute to the genesis of cardiac arrhythmias in Timothy Syndrome. PMID: 27502440
10. Data indicate that a cardiac protein named Myoscape/FAM40B/STRIP2 directly interacts with the L-type calcium channel CaV1.2. PMID: 27122098
11. Results demonstrate that estrogen upregulates cardiac L-type Ca(2+) and sodium-calcium exchange in women through genomic mechanisms. These mechanisms account for sex differences in Ca(2+) handling and spatial heterogeneities of repolarization due to base-apex heterogeneities of Cav1.2alpha and NCX1. By analogy with rabbit studies, these effects account for human sex-difference in arrhythmia risk. PMID: 28807015
12. This study reveals a significant association of CACNA1C with bipolar disorder among the Pakistani population, extending results from other ethnic groups to the Pakistani population for the first time. PMID: 29684488
13. This study demonstrates that CACNA1C gene polymorphisms and CACNA1C protein expression are associated with schizophrenia and its clinical phenotypes. PMID: 28593527
14. This study suggests the possibility that differential brain activations and methylation status of the CACNA1C gene in suicidal attempt patients may be involved in the neurobiology of suicidal behavior. PMID: 28521147
15. The main findings of this study are that (1) CACNA1C gene polymorphism (rs10774053) can increase ritodrine-induced ADEs; (2) maximum infusion rate of ritodrine was significantly associated with ADE occurrence. PMID: 28391406
16. The results of this study indicate an increased risk for Bipolar Disorder in the presence of the rs758723 T allele within CACNA1C. PMID: 28494468
17. Inhibition of CaV1.2 upregulates AT1R signaling in response to angiotensin II. PMID: 28514967
18. Carriers of the CACNA1C allele A exhibited greater left mOFC thickness compared to non-carriers. Moreover, CACNA1C A carriers showed age-related cortical thinning of the left cACC, whereas among A non-carriers there was no effect of age on left cACC cortical thinning. PMID: 28398341
19. The frequency of CACNA1C rs10848683 in genetic high-risk individuals was double that in controls. For SYNE1 rs214950, higher frequencies were found in the genetic high-risk group than in controls. Polymorphisms in CACNA1C and SYNE1 could confer a greater risk of developing Schizophrenia and Bipolar Disorder in individuals who are already at high risk because of their family history. PMID: 27620326
20. Top association findings suggested that the bipolar disorder risk allele at SNP rs4765913 in CACNA1C gene may be associated with an increased risk of cardiac dysrhythmias. PMID: 27529678
21. Data indicate a subpopulation of the CaV1.2 channel pore-forming subunit (alpha1C) within nanometer proximity of protein kinase A (PKA) at the sarcolemma of murine and human arterial myocytes. PMID: 28119464
22. Targeted sequencing revealed trigenic mutations: c.700G>A/p.E234K in DES, c.2966G>A/p.R989H in MYPN, and c.5918G>C/p.R1973P in CACNA1C in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome. PMID: 28427417
23. This report details the case of a female child with a history of surgery for syndactyly of the hands and feet. Despite the absence of facial dysmorphism and the presence of normal psychomotor development, a diagnosis of Timothy syndrome was made based on the association of syndactyly and ECG features. Sanger sequencing of the CACNA1C gene, followed by sequencing of the genes KCNQ1, KCNH2, KCNE1, KCNE2, were negative. PMID: 27868338
24. CACNA1C variants associated with psychiatric disorders were found to be associated with long sleep latency among 8-month-old infants. PMID: 28792954
25. In type 2 diabetes beta cells, exocytosis was slower and not synchronized with membrane depolarizations, and neither Ca2+ influx nor CaV1.2 was concentrated at insulin granules. PMID: 28481223
26. Rs1006737 showed significant association with Major Depressive Disorder (MDD) in the fixed-effect model (Z = 2.56, P = 0.011, OR = 1.08, 95%CI = 1.04-1.12) and the association remained after reanalyzing the data according to ethnicity. Two SNPs, rs4765905 and rs4765937, showed nominal association with MDD, while rs2239073 exhibited significant association with MDD. PMID: 27260792
27. The loss-of-function CACNA1C-Q1916R mutation contributed to Early repolarization syndrome-related sudden cardiac death. PMID: 28493952
28. BIMU8 is a potent blocker of hERG, NaV1.5, and CaV1.2 cardiac ion channels, inducing cardiac arrhythmias. PMID: 28552773
29. CACNA1C rs1006737 SNP and SNPs in linkage disequilibrium with it may influence the risk of QTc prolongation in patients treated with psychotropic drugs with cardiovascular risk PMID: 27893184
30. Functional Characterization of Schizophrenia-Associated Variation in CACNA1C PMID: 27276213
31. Authors assessed the effect across the human brain of the CACNA1C rs1006737 genotype on FA, in a Caucasian clinical sample as well as in health, and whether this genotype effect was different between diagnostic groups and whether it interacted with the ZNF804A rs1344706 genotype. PMID: 27790829
32. The Ca channel alpha 1C (CACNA1C) mRNA and protein expressions were noticeably elevated in H-Cd group. These findings suggest that CACNA1C might be implicated in Cd transport in human placenta. PMID: 27744593
33. Rare CACNA1C genetic variants may contribute to the underlying pathogenic basis for some cases of sudden unexplained death in the young in either a gain or loss-of-function mechanism. PMID: 27218670
34. Authors validated CACNA1C to be the direct target gene of miR-29a-3p, and also established the negative regulatory relationship between miR-29a-3p and CACNA1C via studying the relative luciferase activity. PMID: 27341015
35. SNP rs1006737 associated with increased amygdala volume in healthy individuals PMID: 26048451
36. The association of rs1006737 with gray matter volume in a sample of 278 healthy Han Chinese, was examined. PMID: 26756527
37. The function of purified human Cav1.2 in proteoliposomes, was investigated. PMID: 26750869
38. The linking variation in the CACNA1C gene is a neurochemical marker of neuroaxonal plasticity in those with bipolar disorder. PMID: 26541689
39. Copy number increase of CACNA1C are associated with esophageal squamous cell carcinoma. PMID: 26406417
40. CACNA1C modulates the cellular rhythm amplitude response to lithium, providing a specific link between LTCCs and circadian rhythms in the context of Bipolar disorder and lithium PMID: 26476274
41. Findings indicate that CACNA1C-related differences in amygdala structure and function are present by adolescence. PMID: 26401721
42. The associations of CACNA1C rs10774035 with outcome in schizophrenia-spectrum and non-association with outcome in bipolar disorders PMID: 26475575
43. Single nucleotide polymorphism in an intron of the CACNA1C gene conveyed an increased risk for developing Bipolar disorder. PMID: 26525885
44. CACNA1C risk variant affects facial emotion recognition in healthy individuals. PMID: 26611642
45. This integrative genomic study confirmed the role of RUNX2 as a potential driver of AS and identified a new AS susceptibility gene, CACNA1C, belonging to the calcium signaling pathway. PMID: 26553695
46. Study suggests initial support for a link between bipolar disorder risk SNPs rs472913 (1p32.1) and rs1006737 (CACNA1C) and brain arousal regulation PMID: 26509803
47. We investigated the association of CACNA1C and ANK3 with SZ using meta-analytic techniques. PMID: 26227746
48. SNPs associated with diabetic cataract PMID: 27124316
49. Meta-analysis associated CACNA1C single nucleotide polymorphisms with schizophrenia family samples PMID: 26276307
50. Findings provide phenotypic detail of the CACNA1C AA genotype in non-symptomatic individuals, which suggest primary effects in emotional circuitry, consistent with previously documented alterations in hippocampal/amygdala processing. PMID: 25841664

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HGNC: 1390

OMIM: 114205

KEGG: hsa:775

STRING: 9606.ENSP00000266376

UniGene: Hs.118262