ACTA2 (actin alpha 2) is an actin protein with several aliases including alpha-actin, alpha-actin-2, aortic smooth muscle or alpha smooth muscle actin (α-SMA, SMactin, alpha-SM-actin, ASMA). Actins are a family of globular multi-functional proteins that form microfilaments.

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 movement and the tensing (contraction) of muscles.

2024年12月24日 · ACTA2 (Actin Alpha 2, Smooth Muscle) is a Protein Coding gene. Diseases associated with ACTA2 include Smooth Muscle Dysfunction Syndrome and Aortic Aneurysm, Familial Thoracic 6. Among its related pathways are Actin Nucleation by ARP-WASP Complex and Integrin Pathway.

2023年12月20日 · Discover the role and functions of the Acta2 gene in various biological processes and diseases, and how it affects cell structure and contractility.

what is the difference between acta2 mutations & multisystemic smooth muscle dysfunction syndrome (msmds)? Many mutations in the ACTA2 gene have been found to date in patients with familial thoracic aortic aneurysms (dilatations and tears of the largest vessel in the body).

α-smooth muscle actin, encoded by ACTA2 gene, is an isoform of the vascular smooth muscle actins, typically expressed in the vascular smooth muscle cells contributing to vascular motility and contraction. ACTA2 gene mutations cause a diversity of ...

2025年2月9日 · Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis.

2015年3月10日 · ACTA2 mutations are the major cause of familial thoracic aortic aneurysms and dissections. We sought to characterize these aortic diseases in a large case series of individuals with ACTA2 mutations.

2025年2月9日 · ACTA2 is confirmed to be a major disease gene for autosomal dominant thoracic aortic aneurysms and dissections (12%)and the associated vascular phenotype can be highly malignant. Missense mutation in ACTA2 gene is associated …

Mutations in the ACTA2 gene lead to abnormal production of alpha smooth muscle actin isotype 2, a protein that forms part of the scaffolding of the contractile (shrinking) system of smooth muscle cells.