ACTA2 (actin alpha 2) is an actin protein with several aliases including alpha-actin, alpha-actin-2, aortic smooth muscle or alpha smooth muscle actin (α-SMA, SMactin, alpha-SM-actin, ASMA). Actins are a family of globular multi-functional proteins that form microfilaments . ACTA2 is one of 6 different actin isoforms and is involved in the contractile apparatus of smooth muscle . ACTA2 (as with all the actins) is extremely highly conserved and found in nearly all mammals.
In humans, ACTA2 is encoded by the ACTA2 gene located on 10q22-q24.[ 5] [ 6] 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 .[ 5]
ACTA2 (commonly referred to as alpha-smooth muscle actin or α-SMA) is often used as a marker of myofibroblast formation.[ 7] Studies have shown that ACTA2 is associated with TGF-β pathway that enhances contractile properties of hepatic stellate cells leading to liver fibrosis and cirrhosis .[ 8]
^ a b c GRCh38: Ensembl release 89: ENSG00000107796 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035783 – Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ a b "Entrez Gene: ACTA2 actin, alpha 2, smooth muscle, aorta" .
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