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Reviewed January 2015
What is the official name of the ACTA2 gene?
The official name of this gene is “actin, alpha 2, smooth muscle, aorta.”
ACTA2 is the gene's official symbol. The ACTA2 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 ACTA2 gene?
The ACTA2 gene provides instructions for making a protein called smooth muscle alpha (α)-2 actin, which is part of the actin protein family. Actin proteins are important for cell movement and the tensing (contraction) of muscles.
Smooth muscle α-2 actin is found in smooth muscle cells. Smooth muscles line the internal organs, including the blood vessels, stomach, and intestines. Within smooth muscle cells, smooth muscle α-2 actin forms the core of structures called sarcomeres, which are necessary for muscles to contract. Smooth muscles contract and relax as part of their normal function without being consciously controlled.
Layers of smooth muscle cells are found in the walls of the arteries, which are blood vessels that carry blood from the heart to the rest of the body. Smooth muscle α-2 actin contributes to the ability of these muscles to contract, which allows the arteries to maintain their shape instead of stretching out as blood is pumped through them.
How are changes in the ACTA2 gene related to health conditions?
Where is the ACTA2 gene located?
Cytogenetic Location: 10q23.3
Molecular Location on chromosome 10: base pairs 88,935,073 to 88,991,389
The ACTA2 gene is located on the long (q) arm of chromosome 10 at position 23.3.
More precisely, the ACTA2 gene is located from base pair 88,935,073 to base pair 88,991,389 on chromosome 10.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ACTA2?
You and your healthcare professional may find the following resources about ACTA2 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 ACTA2 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 ACTA2?
acids ; actin ; amino acid ; aneurysm ; aorta ; aortic dissection ; arginine ; arteries ; cell ; contraction ; digestive ; familial ; gene ; histidine ; muscle cells ; mutation ; protein ; stomach ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (12 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.