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ACTA2 is an actin protein involved in smooth muscle contraction and a marker of myofibroblast formation. It is encoded by the ACTA2 gene on human chromosome 10 and mouse chromosome 19.
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).
Abstract 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 diffuse vasculopathies such as thoracic aortic aneurysms and dissections as well as occlusive vascular diseases, including premature ...
ACTA2 is a gene that encodes actin alpha 2, a smooth muscle protein involved in vascular contractility and blood pressure homeostasis. Learn about its aliases, disorders, pathways, products, expression, localization, and more from GeneCards database.
Background—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. Methods and Results—Aortic disease, management, and outcome associated with the first aortic event (aortic dissection or aneurysm repair) were abstracted from the medical records of ...
In contrast, ACTA2 mutations altering R258 are associated with aortic disease, patent ductus arteriosus (PDA) and very early onset cerebrovascular disease, including Moyamoya disease, which is an early onset stroke syndrome characterized by bilateral occlusion of the distal internal carotid arteries and collateral vessel formation [Scott and ...
ACTA2 gene is a specific gene that encodes actin α2. Multisystem smooth muscle dysfunction syndrome (MSMDS) is a multisystem disease characterized by aortic and cerebrovascular lesions caused by ACTA2 gene mutations. There have been many reports of ...
本文介绍了ACTA2（α-SMA）的结构、功能和基因突变相关的血管疾病，以及ACTA2抗体在肌成纤维细胞标志物的应用。文章还展示了使用Abbkine α-SMA Monoclonal Antibody做WB、IF和IHC-P的实验结果。
Multisystemic smooth muscle dysfunction syndrome is a rare genetic disorder caused by mutations in the ACTA2 gene, resulting in intracranial steno-occlusive disease and aortic dissection or aneurysm, among other complications. Epidemiology Most...
To establish progression of imaging biomarkers of stroke, arterial steno-occlusive disease, and white matter injury in patients with smooth muscle dysfunction syndrome caused by mutations in the ACTA2 gene, we analyzed 113 cerebral MRI scans from a retrospective ...