Alpha smooth muscle actin encoded by the ACTA2 gene is a key protein in the highly conserved actin family, which plays a crucial role in cell motility, structure and integrity. This isoform is predominantly expressed in vascular smooth muscle cells, where it is essential for maintaining the structure and function of blood vessels and other smooth muscle tissues. Mutations in ACTA2 are linked to various vascular disorders, including familial thoracic aortic aneurysms and dissections (TAAD) and multisystemic smooth muscle dysfunction syndrome.
