Actin alpha 2, smooth muscle (ACTA2) (ACTA2)

Actin alpha 2, smooth muscle (ACTA2) is a gene that encodes the alpha-smooth muscle actin (α-SMA) protein, a major component of the contractile apparatus in vascular smooth muscle cells (UniProt P62736). It is essential for maintaining the structural integrity and contractile function of the blood vessels, thereby regulating blood pressure and flow (NCBI Gene ID: 59). Mutations in the ACTA2 genomic locus are a leading cause of hereditary thoracic aortic aneurysms and dissections (TAAD) and are associated with other vascular conditions such as Moyamoya disease and premature coronary artery disease (OMIM 102620). Beyond its role in vascular biology, ACTA2 is a definitive marker for myofibroblast activation in fibrotic diseases, where its overexpression contributes to excessive extracellular matrix deposition and tissue stiffening (PubMed: 17994018). Therapeutic approaches targeting ACTA2 include the use of TGF-β signaling inhibitors to reduce its expression in fibrosis and the investigation of gene-editing technologies to correct pathogenic mutations in the genomic locus for patients with TAAD (PubMed: 29367510).

Other names

Alpha-smooth muscle actinα-SMASmooth muscle aortic actinACTSAMYMY5AAT6

Modulation of gene expression through TGF-beta pathway inhibition or potential gene correction via CRISPR/Cas9.