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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.
29 Οκτ 2013 · The stellate cell to myofibroblast transformation process, also known as “activation” - in which Acta2 is an integral component - appears to be analogous to that occurring in fibroblasts after injury and wound healing in other pathological settings , –.
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 .
10 Μαρ 2015 · ACTA2 mutations are associated with high risk of presentation with an acute aortic dissection. The lifetime risk for an aortic event is only 76%, suggesting that additional environmental or genetic factors play a role in expression of aortic disease in individuals with ACTA2 mutations. Introduction.
5 Φεβ 2024 · Genetic testing using a hybridization capture-based gene panel identified a heterozygous variant of the ACTA2 gene (c.442 G > A), generating p.Gly148Arg (G148R). The missense variant G148R...
20 Δεκ 2023 · 20.12.2023. The Acta2 gene, also known as Alpha-Smooth Muscle Actin, is a crucial gene that plays a significant role in various biological processes. This gene encodes a protein called actin, which is an essential component of the cytoskeleton system and is involved in muscle contraction.
This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell mo tility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis.
