Polyclonal Rabbit CACNA1H Antibody
- Known as:
- Polyclonal Rabbit CACNA1H Antibody
- Catalog number:
- KA0496
- Product Quantity:
- 100ul
- Category:
- -
- Supplier:
- KareBay
- Gene target:
- Polyclonal Rabbit CACNA1H Antibody
Related genes to: Polyclonal Rabbit CACNA1H Antibody
- Gene:
- CACNA1H NIH gene
- Name:
- calcium voltage-gated channel subunit alpha1 H
- Previous symbol:
- -
- Synonyms:
- Cav3.2
- Chromosome:
- 16p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 1999-01-08
- Date modifiied:
- 2016-02-04
Related products to: Polyclonal Rabbit CACNA1H Antibody
Related articles to: Polyclonal Rabbit CACNA1H Antibody
- Although structural heart abnormalities are not typically associated with short QT syndrome (SQTS)-related sudden unexpected death, few autopsy studies have examined the underlying pathology and genetic factors of SQTS. Therefore, comprehensive pathologic examinations and whole-exome sequencing were conducted in four men (aged 24, 28, 31, and 45 years) with sudden unexpected death and a short QT interval (sQT). No variants were identified in genes currently known to be associated with SQTS. An enrichment analysis was performed to identify potential genetic causes and mechanisms. None of the men had a history of cardiovascular disease, familial sudden death, or arrhythmia. Rare variants in SCN10A, ANK2, KCNQ2, and CACNA1H were detected, potentially associated with cardiac electrophysiology. One case exhibited apical hypertrophic cardiomyopathy with a rare PLEC variant. The other three displayed left ventricular hypertrabeculation with poor compaction, deep recess formation, myocardial fibrosis, micronecrosis, and minimal inflammatory cell infiltration. The enrichment analysis indicated that these variants were associated with cardiac electrophysiology and morphogenesis. These results showed that individuals with sQT may be at risk of sudden death even without a clinical or family history. This risk may be increased by cardiomyopathy-related gene variants in preclinical or early disease stages. Electrocardiographic evaluation to identify sQT cases followed by morphologic and genetic evaluations improves the assessment of a sudden death risk in individuals with sQT. - Source: PubMed
Publication date: 2026/05/04
Hata YukikoYamaguchi YoshiakiHirono KeiichiIchimata ShojiroMizumaki KoichiNishida Naoki - Calcific aortic valve disease (CAVD) is a prevalent cardiovascular disorder characterized by calcium deposition in the aortic valve, associated with high morbidity and mortality. Mechanical stress plays a key role in its pathogenesis, highlighting the importance of identifying mechanosensitive ion channel-related genes (MICRGs). In this study, transcriptome data from GSE83453 of patients with CAVD and healthy controls were analyzed to identify differentially expressed genes (DEGs). Weighted gene co-expression network analysis (WGCNA) and MICRGs were used to pinpoint key genes. The intersection of DEGs, WGCNA modules, and MICRGs identified as a candidate gene. External validation with GSE51472 and GSE55492 confirmed these findings. Both and studies confirmed that CACNA1H inhibition alleviates CAVD progression by repressing the osteogenic response. Mechanistically, CACNA1H inhibition attenuated phosphorylation of P65, a key regulator of the NF-κB pathway. These results suggest that may serve as a promising biomarker and therapeutic target for CAVD. - Source: PubMed
Publication date: 2026/04/27
Chen JunWang LiushengLi WenyanLi ShunyiDuan XiaolinJiang SijieZhang ZhenZeng Qingchun - Calcium ion (Ca²⁺) dysregulation contributes to both noise-induced (NIHL) and age-related hearing loss (ARHL). Voltage-gated Ca²⁺ channels (VGCCs) regulate Ca²⁺ influx and are, therefore, candidate therapeutic targets for acquired hearing loss. The T-type channel Ca3.2 (CACNA1H) has been proposed to influence cochlear function and vulnerability. Here, we characterized the distribution and age-dependent expression of Cacna1h in the mouse cochlea, and tested whether Ca3.2 modulation could mitigate NIHL or ARHL using genetic deletion and/or pharmacological blockade. Transcriptomic analyses of isolated cochlear sensorineural and metabolic substructures showed that Cacna1h expression remains stable from 6 weeks to 2 years of age. Auditory brainstem responses together with immunofluorescence and quantitative image analyses revealed elevated wave I thresholds and reduced amplitudes in 6-week-old Ca3.2 knockout (KO) compared to wildtype (WT) and heterozygous (HET) mice, despite comparable inner hair cell (IHC), IHC afferent presynaptic ribbon, and outer hair cell (OHC) densities. After noise exposure, threshold shifts were similar across genotypes, with comparable hair cell and ribbon densities across the genotypes. At one year of age, Ca3.2 KO mice exhibited greater functional decline and OHC loss than WT and HET mice. Differences in cochlear function at 6 weeks were not explained by SGN subtype distribution or efferent terminal organization. In aged mice, mibefradil treatment reduced OHC loss but did not preserve cochlear function. These findings suggest that embryonic Ca3.2 deletion resulted in early baseline auditory deficits, consistent with their possible developmental requirement, and did not confer protection against noise-induced or age-related hearing loss. - Source: PubMed
Publication date: 2026/04/20
Pardawala ZainPersic DoraRajda KritiGheorghe TeodoraDemaria MarcoPyott Sonja J - Inter-individual variability in patient susceptibility to bortezomib (BTZ)-induced peripheral neuropathy (BIPN) suggests a potential role of genetic predisposition. However, the comprehensive mutational landscape and its functional relevance remain poorly defined. We aimed to characterize the genetic architecture and inflammatory mechanisms underlying BIPN in multiple myeloma (MM) patients. Whole exome sequencing (WES) was performed on peripheral blood mononuclear cells (PBMCs) from 20 newly diagnosed MM patients treated with BTZ, including eight patients who developed grade ≥ 2 BIPN and 12 controls without neuropathy. To functionally interpret genetic alterations, WES data were integrated with transcriptomic datasets from chemotherapy-induced peripheral neuropathy models obtained from GEO databases. Enrichment analyses and molecular docking were conducted to identify key driver genes and potential BTZ-protein interactions. WES identified 90,465 BIPN-associated single nucleotide polymorphisms, with a distinct co-mutation signature involving 33 zinc-finger (ZNF) family genes. Integrative multi-omics analysis yielded 100 candidate genes enriched in inflammatory response, neuronal development, synaptic organization, and MAPK/NF-κB signaling pathways. Three key genes-CACNA1H, CIC, and ABLIM2-were identified as potential driver genes and demonstrated direct binding affinity with BTZ in docking analyses. Notably, enrichment analyses also suggested shared molecular mechanisms between neurotoxicity and cardiotoxicity. Our findings revealed that inflammation-driven neuronal dysfunction mediated by genetic susceptibility represented a central mechanism of BIPN. Integrative genomic profiling might provide a framework for personalized risk assessment and precision management of BTZ-related neurotoxicity and associated organ toxicity. - Source: PubMed
Publication date: 2026/04/29
Zhou JiaLinMai HanHengLiu YunQingWang NaLyu XiaoMeng QingDanFeng LiLi - To explore the clinical features and molecular genetic characteristics of epilepsy related to fever sensitivity caused by various types of gene mutations, and to analyze the relationships of genotype and clinical phenotype with clinical treatment efficacy. - Source: PubMed
Publication date: 2026/04/09
Wang YanpingZhang LinMa JingboJing MiaoHua YingLiu YanshanFan Xiaochun