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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 .
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 ...
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).
More than 30 ACTA2 gene mutations have been identified in people with familial thoracic aortic aneurysm and dissection (familial TAAD). This disorder involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body.
10 Φεβ 2024 · actin alpha 2, smooth muscle. Gene ID: 59, updated on 10-Feb-2024. Gene type: protein coding. Also known as: ACTSA; SMDYS. See all available tests in GTR for this gene. Go to complete Gene record for ACTA2. Go to Variation Viewer for ACTA2 variants.
29 Μαΐ 2024 · Explore the implications of ACTA2 gene mutations in vascular diseases, including thoracic aortic aneurysms, moyamoya disease, and patent ductus arteriosus. Learn about clinical manifestations, diagnostic approaches, and management strategies for affected individuals.
