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In humans, ACTA2 is encoded by the ACTA2 gene located on 10q22-q24. [5] [6] Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, Moyamoya disease, and multisystemic smooth muscle dysfunction syndrome. [5]
The Actin assembly-inducing protein (ActA) is a protein encoded and used by Listeria monocytogenes to propel itself through a mammalian host cell. ActA is a bacterial surface protein comprising a membrane-spanning region. [1]
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 .
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.
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.
Mutations in the ACTA2 gene lead to abnormal production of alpha smooth muscle actin isotype 2, a protein that forms part of the scaffolding of the contractile (shrinking) system of smooth muscle cells.
