CACNA1C (aa 1150_1200)
- Known as:
- CACNA1C (aa 1150_1200)
- Catalog number:
- NBP1-42820
- Product Quantity:
- 0.1 ml
- Category:
- -
- Supplier:
- ACR
- Gene target:
- CACNA1C ( 1150_1200)
Related genes to: CACNA1C (aa 1150_1200)
- Gene:
- CACNA1C NIH gene
- Name:
- calcium voltage-gated channel subunit alpha1 C
- Previous symbol:
- CCHL1A1, CACNL1A1
- Synonyms:
- Cav1.2, CACH2, CACN2, TS, LQT8
- Chromosome:
- 12p13.33
- Locus Type:
- gene with protein product
- Date approved:
- 1991-01-30
- Date modifiied:
- 2019-04-23
Related products to: CACNA1C (aa 1150_1200)
Related articles to: CACNA1C (aa 1150_1200)
- High cholesterol is a key cardiovascular risk factor that can modulate cardiac electrophysiology and promote acquired long QT syndrome (acLQTS)-related cardiotoxicity, a potentially life-threatening condition associated with QT prolongation, torsade de pointes, and sudden cardiac death. This study investigated the effects of cholesterol overload on human Ether-à-go-go-Related Gene (hERG/Kv11.1; encoded by KCNH2) potassium channels and L-type calcium channels (LTCC; mainly Cav1.2/CACNA1C in cardiomyocytes), as well as the underlying mechanisms of acLQTS-related cardiotoxicity, using human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs), whole-cell patch clamp, quantitative real-time PCR (qRT-PCR), Western blotting, immunoprecipitation, fluorescence imaging, and a high-cholesterol diet guinea pig model with rosuvastatin intervention combined with optical mapping. The results showed that transient cholesterol exposure inhibited hERG tail current amplitude and accelerated channel inactivation, with the effect showing a Y652-dependent component, while also enhancing LTCC activity. Mechanistically, cholesterol overload triggered endoplasmic reticulum (ER) stress, impaired hERG proteostasis, and promoted ER-to-lysosome-associated degradation (ERLAD) of hERG. This process was associated with CANX-mediated recognition of abnormal hERG and FAM134B-LC3B-related autophagic-lysosomal processing, contributing to reduced total hERG expression and membrane-localized mature hERG. FAM134B overexpression partially preserved hERG expression and attenuated cholesterol-induced ER stress/autophagy-related abnormalities. In vivo, rosuvastatin improved lipid profiles and cardiac remodeling in high-cholesterol guinea pigs but was associated with more pronounced action potential duration (APD) and QT interval prolongation under high-cholesterol conditions. These findings suggest that cholesterol overload may increase susceptibility to hERG-related repolarization abnormalities during rosuvastatin exposure and highlight the importance of cholesterol management and electrocardiographic (ECG) monitoring in hypercholesterolemic settings. - Source: PubMed
Publication date: 2026/08/12
Ma LuTeng WeiLiu Xin-YuSong YingYi Ze-ShuaiLi Xiao-XuLi Yue-XinDing Qi-RuiZhou Yu-YanSun XiangHong Hai-YingLi Bao-Xin - variants have been identified in cardiac arrhythmias and developmental disorders (DD). Here, we aimed to explore the association between and epilepsy and the mechanism underlying phenotypic heterogeneity. - Source: PubMed
Publication date: 2026/08/06
Li Yan-FangMo PeiZhang Lan-ZhenZhou Xin-LongZhu Wen-YuZhu Jun-HuiLiao Shu-HongChen Ya-TingDeng WeiwenZhang Dong-MingLiu Xiao-RongChen Yong-JunLiao Wei-PingWang JieCheng Chuan-Fang - Calcium channel blockers (CCBs) show notable interindividual variability in antihypertensive response. This study evaluated the association of a pharmacogenomics (PGx)-guided antihypertensive strategy incorporating rs2238032 and rs776746 with short-term blood pressure (BP) outcomes among Chinese patients with hypertension receiving CCB-containing regimens. - Source: PubMed
Publication date: 2026/07/30
Deng KunhongGuo YanZhang YaxinQiu HuiKuang YunWang YuMeng DiZhang MengGuo Chengxian - CACNA1C-related disorder (CRD), a severe multisystem disorder caused by variants of gene, presents significant diagnostic and management challenges due to its rarity and variable expressivity. This study leverages a detailed longitudinal case report and comprehensive literature review to expand the phenotypic spectrum of CRD with Timothy syndrome (TS) features associated with the NM_001129830.1: c.3061 T > C (p.Cys1021Arg) variant. We describe an individual with CRD exhibiting a severe multisystem phenotype including classic features like syndactyly, profound neurological symptoms, and cardiac arrhythmias. Critically, our detailed clinical and genetic analysis identified previously undocumented features for this specific variant: cerebral infarction, as well as a combined T-cell and B-cell immunodeficiency characterized by specific lymphocyte dysregulation. These novel findings necessitate refined diagnostic protocols and tailored management strategies. By redefining CRD with TS features as a profoundly multisystem disorder, this expanded understanding facilitates improved prognostication, genetic counseling, and targeted therapeutic interventions, aiming to transform management from unpredictable complications into predictable, preventable components, ultimately enhancing quality of life and survival. - Source: PubMed
Publication date: 2026/07/13
Jiang CongshanZhou YafeiZhang SiyuLu XiaoxiaoLi XiaZhang Yanmin - Suicidal behavior is a complex and multifactorial phenomenon rooted in both psychological and biological mechanisms. In recent years, there has been an increasing focus on epigenetic factors, which modulate the influence of environmental factors on the expression of genes associated with emotional and cognitive regulation. - Source: PubMed
Publication date: 2026/03/02
Tussupova AruzhanTatayeva RozaKoygeldinova SholpanBazarbayeva ZhannatSembaeva ZhibekMussina Aiman