ACTA2

WKP

Definition: Alpha-actin-2 also known as actin, aortic smooth muscle or alpha smooth muscle actin (α-SMA, SMactin, alpha-SM-actin, ASMA) is a protein that in humans is encoded by the ACTA2 gene located on 10q22-q24.

Actin alpha 2, the human aortic smooth muscle actin gene, is one of six different actin isoforms (ACTAs ) which have been identified.

Actins (ACTs ) are highly conserved proteins that are involved in cell motility, structure and integrity.

Alpha actins (ACTAs ) are a major constituent of the contractile apparatus.

Alpha-smooth muscle actin (α-SMA) is commonly used as a marker of myofibroblast formation.

Pathology

 ACTA2 mutations

• Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, Moyamoya disease, and multisystemic smooth muscle dysfunction syndrome.

See also

 SMA smooth ùuscle actin