Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

CACN gene family

Reviewed June 2012

What are the CACN genes?

Genes in the CACN family provide instructions for making calcium channels. These channels transport positively charged calcium atoms (calcium ions) into cells. Calcium channels play key roles 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.

Calcium channels are made up of several protein components (subunits), each of which is produced from a particular gene. The α1 (alpha-1) subunit is the largest and most important component of a calcium channel. It forms the hole (pore) through which calcium ions can flow. Several other subunits interact with the α1 subunit to help regulate the channel's function.

Calcium channels have critical functions in many different tissues. For example, these channels are abundant in muscles used for movement (skeletal muscles). For the body to move normally, skeletal muscles must contract and relax in a coordinated way. Muscle contractions are triggered by the flow of certain ions, including calcium, into muscle cells. By controlling the flow of calcium ions, calcium channels are part of the cellular machinery that initiates muscle contractions.

Additionally, calcium channels are present in heart (cardiac) muscle and in smooth muscle, which is found in the walls of organs such as the stomach, intestines, and lungs. Calcium channels also help transmit electrical signals within and between nerve cells (neurons) in the brain and throughout the body. Other cells that contain calcium channels include hormone-producing (endocrine) cells, pacemaker cells in the heart, and sensory cells (such as cells in the eye that detect light and color).

Which genes are included in the CACN gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the CACN family (http://www.genenames.org/genefamily/cacn.php).

Genetics Home Reference summarizes the normal function and health implications of these members of the CACN gene family: CACNA1A, CACNA1C, CACNA1F, CACNA1S, and CACNB4.

What conditions are related to genes in the CACN gene family?

Genetics Home Reference includes these conditions related to genes in the CACN gene family:

  • episodic ataxia
  • familial hemiplegic migraine
  • hypokalemic periodic paralysis
  • juvenile myoclonic epilepsy
  • malignant hyperthermia
  • spinocerebellar ataxia type 6
  • sporadic hemiplegic migraine
  • Timothy syndrome
  • X-linked congenital stationary night blindness

Where can I find additional information about the CACN gene family?

You may find the following resources about the CACN gene family helpful.

  • Neuromuscular Disease Center, Washington University (http://neuromuscular.wustl.edu/mother/chan.html)
  • Basic Neurochemistry (sixth edition, 1999): Voltage-Gated Calcium Ion Channels (http://www.ncbi.nlm.nih.gov/books/NBK27950/box/A1640/) (U.S. National Library of Medicine)
  • Eurekah Bioscience Collection: High Voltage-Activated Ca2+ Channels (http://www.ncbi.nlm.nih.gov/books/NBK6181/) (U.S. National Library of Medicine)

What glossary definitions help with understanding the CACN gene family?

calcium ; cardiac ; cell ; channel ; contraction ; gene ; hormone ; ions ; pacemaker ; protein ; sensory cells ; stomach ; subunit ; voltage

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

These sources were used to develop the Genetics Home Reference summary for the CACN gene family.

  • Dolphin AC. A short history of voltage-gated calcium channels. Br J Pharmacol. 2006 Jan;147 Suppl 1:S56-62. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16402121?dopt=Abstract)
  • Catterall WA, Perez-Reyes E, Snutch TP, Striessnig J. International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels. Pharmacol Rev. 2005 Dec;57(4):411-25. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16382099?dopt=Abstract)
  • Bidaud I, Mezghrani A, Swayne LA, Monteil A, Lory P. Voltage-gated calcium channels in genetic diseases. Biochim Biophys Acta. 2006 Nov;1763(11):1169-74. Epub 2006 Sep 5. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17034879?dopt=Abstract)
  • Arikkath J, Campbell KP. Auxiliary subunits: essential components of the voltage-gated calcium channel complex. Curr Opin Neurobiol. 2003 Jun;13(3):298-307. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12850214?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: June 2012
Published: July 7, 2014