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10 Μαρ 2015 · ACTA2 (actin, α-2, smooth muscle, aorta; OMIM *102620) is the most frequently mutated gene causing familial thoracic aortic aneurysms and dissection and is responsible for 12% to 21% of familial thoracic aortic aneurysms and dissection cases. 3 – 6 ACTA2 encodes the smooth muscle–specific isoform of α-actin, which polymerizes to form the ...
- Acta2
ACTA2 (actin, -2, smooth muscle, aorta; OMIM *102620) α is...
- Circulation
Methods and Results— Clinical features and outcomes of 71...
- Acta2
ACTA2 - actin alpha 2, smooth muscle. Synonym (s): ACTSA. Previous symbol (s) and name (s): actin, alpha 2, smooth muscle, aorta. Type: gene with protein product. Chromosomal location: 10q23.31. OMIM: 102620.
1 Οκτ 2024 · 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 .
21 Νοε 2019 · The ACTA2 gene encodes for smooth muscle specific α-actin, a critical component of the contractile apparatus of the vascular smooth muscle cell. Pathogenic variants in the ACTA2 gene are the most frequently encountered genetic cause of non-syndromic hereditary thoracic aortic disease (HTAD).
The ACTA2 gene provides instructions for making a protein called smooth muscle alpha (α)-2 actin, which is part of the actin protein family. Learn about this gene and related health conditions.
ACTA2 (actin, alpha-2, smooth muscle, aorta; OMIM *102620) is the most frequently mutated gene causing FTAAD and is responsible for 12–21% of FTAAD cases 3 – 6. ACTA2 encodes the smooth muscle-specific isoform of α-actin, which polymerizes to form the thin filament of the smooth muscle contractile filament.
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). Only few of them, and primarily those that change the amino acid Arginine 179 (Arg179) are associated with a more extensive form of the disease that affects the whole body.
