This gene encodes one of six different actin proteins. 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. 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 multisystemic smooth muscle dysfunction syndrome. [provided by RefSeq, Sep 2017]
Molecular Weight(MW)
43 kDa
Function
Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Defects in ACTA2 are the cause of aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]. They are primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance.
Cellular Localization
Cytoplasm,Cytoskeleton
Application
WB
Western blot analysis of ACTA2 in mouse heart , rat heart lysates and using ACTA2 Goat pAb.
IF
Immunofluorescence analysis of ACTA2(Green) in human Breast cancer tissue using ACTA2 Goat pAb, and DAPI(Blue)