2006年2月15日 · CACNA1C encodes voltage-dependent L-type calcium channel subunit alpha-1C (CACNA1C), which is involved in the embryologic development of several organs and processes including the central nervous system [Panagiotakos et al 2019], the bones [Ramachandran et al 2013, Atsuta et al 2019], and glucose metabolism [Pan et al 2016]. …

2024年12月24日 · CACNA1C (Calcium Voltage-Gated Channel Subunit Alpha1 C) is a Protein Coding gene. Diseases associated with CACNA1C include Timothy Syndrome and Long Qt Syndrome 8. Among its related pathways are DREAM Repression and Dynorphin Expression and TCR Signaling (Qiagen).

The CACNA1C gene provides instructions for making one of several calcium channels. Calcium channels, which transport positively charged calcium atoms (calcium ions) into cells, play a key role in a cell's ability to generate electrical signals.

2025年2月8日 · CACNA1C (CaV1.2) and other L-type calcium channels in the pathophysiology and treatment of psychiatric disorders: Advances from functional genomics and pharmacoepidemiology.

CACNA1C: The CACNA1C gene, located on chromosome 12p13.33, encodes the alpha-1C subunit which is widely expressed in various tissues, including the brain, heart, and smooth muscle. It contributes to the formation of L-type calcium channels, which play crucial roles in cardiac and neuronal excitability, muscle contraction, and synaptic ...

Our report expands the cardiac phenotype of CACNA1C variants and reflects the variable expressivity of mutations in the L‐type Ca 2+ channel. Keywords: atrial fibrillation, CACNA1C, cardiac‐only Timothy syndrome, sick sinus syndrome.

CACNA1C encodes the Cav1.2 subunit of voltage-gated calcium channels, which themselves have been functionally implicated in a broad spectrum of neuropsychiatric syndromes. Research has concentrated on uncovering the underlying biological mechanisms that could be responsible for this increased risk.

2009年6月3日 · We have identified a SNP in CACNA1C, the binding site for calcium channel blockers, with a significant interaction with treatment strategy in a group of hypertensive patients with CAD. Individuals homozygous for the major allele had a reduction in the occurrence of death, nonfatal myocardial infarction, or nonfatal stroke when treated with a ...

The CACNA1C gene encodes multiple isoforms of the pore-forming alpha-1C subunit of the long-lasting (L-type) voltage-gated calcium channel CaV1.2.

2016年3月24日 · Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca (v)1.1 mutation. A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of …