CACNA1C (C_term)
- Known as:
- CACNA1C (C_term)
- Catalog number:
- AP16986PU-N
- Product Quantity:
- 0.1 mg
- Category:
- -
- Supplier:
- ACR
- Gene target:
- CACNA1C (C_term)
Related genes to: CACNA1C (C_term)
- 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 (C_term)
Related articles to: CACNA1C (C_term)
- Gastrointestinal (GI) motility is coordinated by multiple neurotransmitter systems acting on distinct post-junctional cells within the smooth muscle-interstitial cell-PDGFRα⁺ (SIP) syncytium. This study integrates physiological, pharmacological, and single-cell transcriptomic data to define the cellular mechanisms underlying inhibitory and excitatory neuromuscular transmission in the human colon. Inhibitory signaling involves purinergic (P2Y₁) and adrenergic (α₁A) receptors, which activate SKCa channels in PDGFRα⁺ cells, while nitrergic (nitric oxide (NO)-soluble guanylate cyclase (sGC)-cGMP) pathways are primarily mediated by interstitial cells of Cajal (ICCs) and smooth muscle cells (SMCs). VIPergic signaling also contributes to relaxation through cAMP-dependent mechanisms possibly located in PDGFRα⁺ cells. Excitatory transmission is mainly driven by muscarinic M3 and M2 receptors expressed in ICCs and SMCs, leading to calcium-dependent contractions. Pharmacologically, hyoscine butylbromide (HBB) reduces acetylcholine (ACh)-induced contractions by blocking M2/M3 receptors, whereas neostigmine enhances cholinergic transmission to restore motility. Blockade of voltage-gated calcium channels (Cav1.2, CACNA1C) by agents such as otilonium bromide further contributes to spasmolytic effects. These findings provide an integrated framework linking receptor expression, cellular mechanisms, and drug actions that modulate GI motility. - Source: PubMed
Publication date: 2026/05/06
Guzman PerePenchova MihaelaVergara PatriJimenez Marcel - High-Grade Serous Ovarian Cancer (HGSOC) is the most lethal gynecological malignancy due to aggressive growth, widespread metastases, and high intra-tumoral heterogeneity. Poor prognosis is largely due to late diagnosis, hence there is an urgent need to identify novel biomarkers for screening, diagnosis, and monitoring. Here, we propose the voltage-dependent calcium channel hCaV1.2 encoded by CACNA1C as a potential biomarker and therapeutic target in HGSOC. Using IHC analysis for ten ovarian cancer patients, cytotoxicity assay, TCGA gene expression and survival analyses, homology modeling, molecular docking, Calcium channel membrane assembly and molecular dynamics simulations, we tested CACNA1C's role in HGSOC progression and the effect of blocking on cancer cell survival. We show that nifedipine (NIFE), a calcium channel blocker (CCB), had a tumor suppressive effect based on binding models predicted by three-dimensional computer assisted molecular modeling and in vitro validation using human HGSOC cell line. Using The Cancer Genome Atlas ovarian public cohort, we found CACNA1C mRNA expression strongly correlated with poor patient survival for late-stage and metastasis than primary. We also show strong correlation of CACNA1C protein expression using immunohistochemistry correlating with COH ovarian carcinomas patients' disease progression. This research demonstrates that targeting HGSOC via CCBs may be therapeutically beneficial. By establishing further in vitro, in vivo, and clinical trials using FDA approved NIFE may be repurposed to target CACNA1C for HGSOC. - Source: PubMed
Publication date: 2026/04/22
Hammad Mohamed AWu Kingsley YAbd El-Fattah Eslam EAboody Karen SChang Chia-En A - Length variation in tandem repeats is a well-established driver of disease risk and is commonly assumed to arise from persistent genomic instability. Here, we characterize TRACT, a 30-bp variable number tandem repeat (VNTR) intronic to the calcium channel gene . TRACT exhibits extreme length variation (3-30+ kb) and has been previously linked to risk for bipolar disorder and schizophrenia. By examining multiple human cohorts, we find that TRACT alleles are strikingly bimodal in both length and sequence composition. Short alleles (TRACT , ∼6 kb) and long alleles (TRACT , ∼24 kb) are enriched for distinct 30-bp variants and are found on separate haplotypes that arose prior to the human migration out of Africa. Our data suggest that these ancient alleles expanded via perfect repeat tracts that were disrupted by accumulated mutations to result in relative length stability in extant humans, where there is no evidence for overt germline or somatic instability. Interestingly, neuropsychiatric disease risk is associated with specific 30-bp variants within TRACT alleles, but not with overall TRACT length or with 30-bp variants enriched in TRACT alleles. Instead, TRACT alleles are associated with decreased gene expression in fibroblasts and testis. Together, these findings motivate joint examination of both sequence composition and length variation to fully understand the effects of VNTRs on evolution, trait variation, and disease risk. - Source: PubMed
Publication date: 2026/04/23
Song Janet H TZhao VivienGrant Rachel LKingsley David M - Dilated cardiomyopathy (DCM) is a primary myocardial disorder characterized by progressive ventricular dilatation and impaired myocardial systolic contractility, and it represents the most common form of cardiomyopathy globally. DCM drives a substantial worldwide disease burden, thus presenting a formidable and persistent challenge to global public health systems. The pathogenesis of DCM is marked by extreme etiological heterogeneity: 30%-50% of cases have a familial origin, with genetic determinants serving as the core driver of disease onset and progression. With the rapid advancement and widespread application of next-generation sequencing (NGS) technologies, a growing repertoire of DCM-causative genes has been successfully identified. These genes encode key functional proteins that regulate multiple core physiological processes in cardiomyocytes, including sarcomeric structure maintenance, intracellular signal transduction, and myocardial energy homeostasis. DCM-causing genes can be classified into multiple categories according to their functions. Sarcomeric protein genes (such as TTN, MYH7, and TNNT2) disrupt sarcomere assembly and contractile function through mechanisms such as haploinsufficiency and the toxic peptide hypothesis; mutations in nuclear membrane protein genes (such as LMNA and EMD) cause abnormal nuclear structure and disordered mechanotransduction signals; ion channel genes (such as SCN5A, CACNA1C, and RYR2) affect electrophysiological balance and calcium handling; desmosome-related genes (such as DSC2 and DSP) are associated with abnormal cell junctions and dysregulation of the Wnt/β-catenin pathway; KLF13, ETS1, and BMP10 are possible candidate genes for DCM with limited research; loss of function of RBM20 leads to abnormal splicing of TTN, CamkIIδ, RyR2, etc. and causes nuclear import defects as well as cytoplasmic RBM20-RNP granule toxicity, thereby driving ventricular dilation. These genes drive myocardial remodeling through common signaling pathways (such as ERK and TGF-β). Potential treatment strategies include gene-level interventions, targeted pathway inhibitors, and myosin activators. However, genetic heterogeneity results in a narrow applicable population for single-gene therapies. Future research needs to shift from targeting individual genes to improving the common pathological environment to achieve broad-spectrum treatment. Exploring upstream prevention of mutations or activation of endogenous repair mechanisms provides new directions for the treatment of DCM. - Source: PubMed
Publication date: 2026/03/28
Zhang XiaoZhang XinyuChen YunruHuan NaWang ChenglongZhang Dawu - Dopamine signaling is critical for cognitive and emotional regulation and is implicated in multiple neuropsychiatric disorders. One downstream effector of dopamine is the L-type calcium channel CaV1.2, encoded by the risk gene . Genome-wide association studies have consistently linked single nucleotide polymorphisms to schizophrenia, bipolar disorder, and related conditions. We previously showed that homozygous deletion of in dopamine receptor 1 (D1)-expressing cells enhances remote (30 days post-training) contextual fear memory in male mice. Here, we extend these findings by examining sex- and gene dosage-dependent behavioral consequences of loss in D1 cells. We find a sex-dependent dissociation, where females show enhanced aversive memory up to 30 days post-training even with partial loss, whereas males require complete loss to show enhanced fear. In contrast, males show impaired spatial memory in the Water Y-maze following heterozygous or homozygous deletion, an effect not observed in females. Cue-associated fear memory was transiently elevated in females but unaffected in males. Locomotor activity was reduced in females during the initial minutes of testing, with no effects in males, while social interaction and anxiety-like behaviors were unchanged across groups. These findings indicate that Ca 1.2 signaling in D1-expressing cells differentially regulates aversive versus spatial memory in a sex-dependent manner, providing insight into how risk variants may contribute to sex-specific cognitive phenotype. - Source: PubMed
Publication date: 2026/04/08
Walsh Josiah DScala-Chavez DiegoLee Andrew SMartínez-Rivera ArleneRajadhyaksha Anjali M