Human Actin Alpha 2, Smooth Muscle (ACTA2) Protein

Background

ACTA2 encodes actin alpha 2, a protein that is a key component of the contractile apparatus in smooth muscle cells. Smooth muscle alpha actin is a major component of the contractile apparatus in smooth muscle cells, contributing to the contractility and mechanical properties of various organs and tissues, including blood vessels, airways, and the gastrointestinal tract. ACTA2 (as with all the actins) is extremely highly conserved and found in nearly all mammals Is essential for physiological processes such as blood pressure regulation, airway tone, and peristalsis in the digestive system. It forms filamentous structures that interact with other proteins to generate force and facilitate muscle contraction. Various signaling pathways and transcription factors control the expression of ACTA2, ensuring its proper expression in smooth muscle cells. Mutations or dysregulation of ACTA2 expression have been associated with several smooth muscle-related disorders, including vascular diseases such as thoracic aortic aneurysms and dissections (TAAD), familial thoracic aortic aneurysms and dissections (FTAAD), and other vascular malformations.