ACTA2 Human

Actins exist in two main forms: G-actin (globular actin) and F-actin (filamentous actin). G-actin is the monomeric form, while F-actin forms helical polymers. Both forms are intrinsically flexible structures . ACTA2 specifically encodes the smooth muscle actin found in the aorta, which plays a crucial role in vascular contractility and blood pressure homeostasis .

The ACTA2 gene is located on chromosome 10q23.31 in humans . Mutations in this gene can lead to a variety of vascular diseases, including thoracic aortic disease, coronary artery disease, stroke, Moyamoya disease, and multisystemic smooth muscle dysfunction syndrome .

ACTA2 is involved in the contractile apparatus of smooth muscle cells. It is essential for the contraction of vascular smooth muscle, which is critical for maintaining blood pressure and regulating blood flow . The protein is also associated with the TGF-β pathway, which enhances the contractile properties of hepatic stellate cells, leading to liver fibrosis and cirrhosis .

Mutations in the ACTA2 gene are linked to several vascular diseases. For instance, thoracic aortic aneurysms and dissections (TAAD) are often associated with mutations in this gene . Additionally, ACTA2 is used as a marker for myofibroblast formation, which is significant in wound healing and tissue repair .

Human recombinant ACTA2 is produced using recombinant DNA technology, which involves inserting the human ACTA2 gene into a suitable expression system, such as bacteria or yeast, to produce the protein in large quantities. This recombinant protein is used in various research applications, including studies on vascular diseases, smooth muscle function, and drug development.