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CACNA1C gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CACNA1C gene

The CACNA1C gene provides instructions for creating calcium channels that regulate electrical signals in the heart and brain, which are critical for heartbeat and nerve transmission.

Normal Function

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. Calcium ions are important for many cellular functions, including regulating the electrical activity of cells, cell-to-cell communication, the tensing of muscle fibers (muscle contraction), and the regulation of certain genes, particularly those involved in the development of the brain and bones before birth.

The calcium channel produced from the CACNA1C gene is known as CaV1.2. These channels are found in many types of cells, although they appear to be particularly important for the function of heart cells (cardiomyocytes) and nerve cells (neurons) in the brain. In the heart, CaV1.2 channels open and close at specific times to control the flow of calcium ions into cardiomyocytes at each heartbeat. How long the channels are open and closed is regulated to maintain normal heart function. In the brain, CaV1.2 channels are thought to be involved in memory, the fear response, and the rapid transmission of nerve signals.

Researchers have discovered that many different versions (isoforms) of the CaV1.2 channel can be produced from the CACNA1C gene by a mechanism called alternative splicing. This mechanism produces different versions of the channel by cutting and rearranging the genetic instructions in different ways.

Health Conditions Related to Genetic Changes

Short QT syndrome

MedlinePlus Genetics provides information about Short QT syndrome.

Timothy syndrome

Variants (also known as mutations) in the CACNA1C gene have been found to cause Timothy syndrome. This condition primarily affects the heart but can affect many other areas of the body, including the fingers and toes, teeth, nervous system, and immune system. Timothy syndrome is characterized by a heart condition called long QT syndrome, which causes the heart (cardiac) muscle to take longer than usual to recharge between beats. This abnormality in the heart's electrical system can cause severe abnormalities of the heart rhythm (arrhythmias), which can lead to sudden death.

Variants in the CACNA1C gene change the structure of CaV1.2 channels throughout the body. The altered channels stay open much longer than usual, which allows calcium ions to continue flowing into cells abnormally. The resulting overload of calcium ions within cardiac muscle cells changes the way the heart beats and can cause abnormal heart muscle contraction and arrhythmia.

Brugada syndrome

MedlinePlus Genetics provides information about Brugada syndrome.

Other disorders

Variants in the CACNA1C gene have also been identified in people with a condition called long QT syndrome 8. These individuals have arrhythmia that can lead to fainting (syncope) or cardiac arrest and sudden death without the other features of Timothy syndrome.

Other variants in the CACNA1C gene have been found in individuals with a condition known as CACNA1C-related disorder. People with this condition have some but not all of the features of Timothy syndrome. These features can include seizures, intellectual disability, autism spectrum disorder, anxiety, and walking difficulty. Individuals with this condition can also experience delayed speech, language or motor skills.

Other Names for This Gene

  • CAC1C_HUMAN
  • CACH2
  • CACN2
  • CACNL1A1
  • calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit
  • calcium channel, L type, alpha 1 polypeptide, isoform 1, cardic muscle
  • calcium channel, voltage-dependent, L type, alpha 1C subunit
  • CaV1.2
  • CCHL1A1
  • DHPR, alpha-1 subunit
  • MGC120730
  • voltage-dependent L-type calcium channel alpha 1C subunit
  • voltage-gated calcium channel alpha subunit Cav1.2

Frequently Asked Questions

Mutations in the CACNA1C gene can lead to Short QT syndrome Type 4, a condition characterized by an abnormally short QT interval on an electrocardiogram (ECG). This occurs because the calcium channels close too quickly, shortening the time it takes for heart cells to reset after each beat. Symptoms may include palpitations, dizziness, or fainting (syncope), and in severe cases, it can lead to life-threatening arrhythmias such as ventricular fibrillation. Some individuals may be asymptomatic until a cardiac event occurs, making regular cardiac screening important for those with a known genetic variant. What is the relationship between CACNA1C variants and neurological conditions like bipolar disorder or autism spectrum disorder?::CACNA1C is one of the most commonly implicated genes in complex neuropsychiatric disorders, including bipolar disorder, autism spectrum disorder, and schizophrenia. These conditions are polygenic, meaning they result from the combined effect of many genetic variants and environmental factors, rather than a single mutation. CACNA1C variants may influence brain development and neuronal signaling, particularly in areas involved in mood regulation and cognitive function. However, the presence of a CACNA1C variant does not guarantee the development of these disorders, and genetic testing is not currently used for routine diagnosis of neuropsychiatric conditions. Can CACNA1C mutations cause both cardiac and neurological symptoms in the same individual?::Yes, because the CACNA1C gene is expressed in both the heart and the brain, certain mutations can affect both systems. For example, some individuals with CACNA1C-related cardiac channelopathies may also experience neurological symptoms such as seizures, developmental delays, or cognitive impairments. The specific phenotype depends on the type and location of the mutation. Clinicians should consider a comprehensive evaluation that includes both cardiac and neurological assessments if a CACNA1C variant is identified, especially in pediatric patients. What is the role of alternative splicing in CACNA1C function, and how might it influence disease risk?::Alternative splicing allows the CACNA1C gene to produce multiple isoforms of the CaV1.2 calcium channel, each with potentially different functional properties. This diversity is crucial for fine-tuning calcium signaling in different tissues and developmental stages. Mutations that disrupt splicing can lead to the production of non-functional or aberrant channel proteins, which may contribute to disease. Understanding the specific isoforms affected by a mutation can help predict the severity and type of clinical manifestations, although this area is still an active field of research.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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