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Official Full Name: actin alpha 2, smooth muscle
Also known as: ACTSA
This gene encodes one of six different kinds of actin. Actin is a highly conserved protein involved in cell motility, structure, integrity and intercellular signaling. The encoded protein is a smooth muscle actin involved in vasoconstriction and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke and Moyamoya disease, as well as multisystem smooth muscle dysfunction syndrome.