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Reviewed October 2007
What is the official name of the CACNA1S gene?
The official name of this gene is “calcium channel, voltage-dependent, L type, alpha 1S subunit.”
CACNA1S is the gene's official symbol. The CACNA1S 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 CACNA1S gene?
The CACNA1S gene belongs to a family of genes that provide instructions for making calcium channels. These channels, which transport positively charged calcium atoms (ions) into cells, play a key role in a cell's ability to generate and transmit electrical signals.
The CACNA1S gene provides instructions for making calcium channels that are abundant in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of certain ions into muscle cells. Channels made with the CACNA1S protein control the transport of calcium ions into muscle cells and are part of the cellular machinery that initiates muscle contractions.
Channels made with the CACNA1S protein also activate a protein called ryanodine receptor 1 (produced by the RYR1 gene). Ryanodine receptor 1 forms a channel that releases stored calcium ions within muscle cells in response to certain signals. The resulting increase in calcium ion concentration stimulates muscle fibers to contract, allowing the body to move.
Does the CACNA1S gene share characteristics with other genes?
The CACNA1S 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 CACNA1S gene related to health conditions?
Where is the CACNA1S gene located?
Cytogenetic Location: 1q32
Molecular Location on chromosome 1: base pairs 201,039,506 to 201,112,565
The CACNA1S gene is located on the long (q) arm of chromosome 1 at position 32.
More precisely, the CACNA1S gene is located from base pair 201,039,506 to base pair 201,112,565 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CACNA1S?
You and your healthcare professional may find the following resources about CACNA1S 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 CACNA1S 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 CACNA1S?
acidosis ; acids ; amino acid ; anesthetics ; arginine ; calcium ; cell ; channel ; contraction ; cysteine ; gene ; histidine ; hyperthermia ; increased body temperature ; ions ; ion transport ; muscle cells ; muscle relaxant ; mutation ; protein ; receptor ; skeletal muscle ; subunit ; surgery ; voltage
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (11 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.