ACTA2 Gene
ACTA2– The ACTA2 gene provides instructions for making a protein called smooth muscle alpha (α)-2 actin, which is part of the actin protein family. Actin proteins are important for cell contraction of muscles. The major function of vascular smooth muscle cells (SMCs) is to contract in response to the stretch resulting from pulsatile blood flow, a process that is dependent on the cyclic interaction between thin filaments, composed of the SMC-specific isoform of α-actin (SM α-actin, encoded by ACTA2). Heterozygous ACTA2 mutations cause familial thoracic aortic aneurysms and dissections (TAAD). Linkage analysis and association studies of individuals in 20 families with ACTA2 mutations indicate that mutation carriers can have a diversity of vascular diseases, including premature onset of coronary artery disease (CAD), premature ischemic strokes (including Moyamoya disease [MMD]), as well as previously defined TAAD.
