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Reviewed January 2008
What is the official name of the CACNA1C gene?
The official name of this gene is “calcium channel, voltage-dependent, L type, alpha 1C subunit.”
CACNA1C is the gene's official symbol. The CACNA1C gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the CACNA1C gene?
The CACNA1C gene belongs to a family of genes that provide instructions for making calcium channels. These channels, which transport positively charged calcium atoms (calcium ions) into cells, play a key role in a cell's ability to generate and transmit electrical signals. Calcium ions are involved in many different cellular functions, including cell-to-cell communication, the tensing of muscle fibers (muscle contraction), and the regulation of certain genes.
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 normal function of heart and brain cells. In the heart, CaV1.2 channels open and close at specific times to control the flow of calcium ions into cardiac muscle cells. By changing the electrical properties of these cells, calcium channels signal the cardiac muscle to contract and help maintain the heart's normal rhythm. The channels' role in the brain and in other tissues is less clear.
Researchers have discovered that many different versions 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. Some versions of the CaV1.2 channel are more common than others in certain parts of the body. For example, in the heart and brain, about 80 percent of CaV1.2 channels are made with a particular segment known as exon 8. The other 20 percent of CaV1.2 channels contain a slightly different version of this segment, known as exon 8A. This difference becomes important when researchers are studying the effects of CACNA1C mutations in various tissues.
Does the CACNA1C gene share characteristics with other genes?
The CACNA1C gene belongs to a family of genes called CACN (calcium channels).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the CACNA1C gene related to health conditions?
Genetics Home Reference provides information about Brugada syndrome, which is also associated with changes in the CACNA1C gene.
Where is the CACNA1C gene located?
Cytogenetic Location: 12p13.3
Molecular Location on chromosome 12: base pairs 1,970,785 to 2,697,948
The CACNA1C gene is located on the short (p) arm of chromosome 12 at position 13.3.
More precisely, the CACNA1C gene is located from base pair 1,970,785 to base pair 2,697,948 on chromosome 12.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CACNA1C?
You and your healthcare professional may find the following resources about CACNA1C helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the CACNA1C gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding CACNA1C?
alternative splicing ; amino acid ; arginine ; arrhythmia ; atypical ; calcium ; cardiac ; cell ; channel ; contraction ; exon ; gene ; glycine ; ions ; ion transport ; muscle cells ; mutation ; protein ; serine ; splicing ; subunit ; syndrome ; voltage
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (6 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.