ACTA2 (actin alpha 2) is an actin protein with several aliases including alpha-actin, alpha-actin-2, aortic smooth muscle or alpha smooth muscle actin...
9 KB (1,129 words) - 15:32, 17 July 2025
magnitude of fibrosis being in proportion to the increase in TGF-β levels. ACTA2 is associated with the TGF-β pathway that enhances contractile properties...
120 KB (12,471 words) - 22:18, 22 July 2025
SMAC, previous names of Comprehensive metabolic panel blood tests α-SMA or ACTA2, an actin protein Spinal muscular atrophy, a severe neuromuscular disorder...
3 KB (385 words) - 12:03, 25 July 2025
(MSMDS) is a genetic disorder caused by R179 missense mutations in the ACTA2 gene. Initially described as a case report in 1999, it was characterized...
6 KB (580 words) - 08:45, 12 July 2025
Additionally, genetic testing for pathogenic variants in genes such as FBN1 and ACTA2 may confirm a familial predisposition to aortic pathology. Early detection...
6 KB (549 words) - 17:17, 16 July 2025
disease. Moyamoya disease-5 (MYMY5; 614042) is caused by mutation in the ACTA2 gene (102620) on the long arm of chromosome 10 (10q23.3); and moyamoya disease-6...
32 KB (3,714 words) - 22:05, 28 July 2025
dissection FOXE3, SMAD2, LOX, MAT2A, ELN, HEY2, TGFB3, TGFBR1, TGFBR2, FBN1, ACTA2, MYLK, SMAD3, PRKG1, MFAP5, TGFB2, SMAD4, MYH11 dominant Feingold syndrome...
43 KB (995 words) - 17:13, 17 July 2025
mammalian protein ACTA1, actin alpha 1 (skeletal muscle), human protein ACTA2, actin alpha 2 (smooth muscle), human protein Actin assembly-inducing protein...
1 KB (211 words) - 02:36, 28 March 2025
which is a general mesenchymal marker, α-smooth muscle actin (human gene = ACTA2), and for palladin, which is a cytoskeletal actin scaffold protein. They...
10 KB (1,066 words) - 09:30, 25 May 2025
of CAF Markers Name of markers Functions α-smooth muscle actin (α-SMA, ACTA2) Marker for myofibroblasts Fibroblast activation protein (FAP) Marker for...
31 KB (3,599 words) - 22:57, 3 January 2025
HGNC:15814 Q9NR19 202 ACSS3 HGNC:24723 Q9H6R3 203 ACTA1 HGNC:129 P68133 204 ACTA2 HGNC:130 P62736 205 ACTB HGNC:132 P60709 206 ACTBL2 HGNC:17780 Q562R1 207...
277 KB (17 words) - 16:09, 5 July 2025
are involved in skeletal striated muscle (ACTA1), smooth muscle tissue (ACTA2), intestinal muscles (ACTG2) and cardiac muscle (ACTC1). The actin in the...
159 KB (18,673 words) - 00:30, 10 July 2025
Milewicz DM. Mutations in genes encoding smooth muscle contractile proteins, ACTA2 and MYH11, cause hyperplastic vasculomyopathy and lead to diffuse and diverse...
7 KB (851 words) - 04:46, 5 August 2023
being in proportion to increase in TGF-β levels. Studies have shown that ACTA2 is associated with TGF-β pathway that enhances contractile properties of...
67 KB (8,184 words) - 21:14, 18 July 2025
in cell culture. T98G cells are known for having high expression of the ACTA2 gene, which is involved in cell motility and structure. T98G cells are polyploidy...
2 KB (244 words) - 01:34, 16 March 2025
for example vSMCs but not pericytes express alpha-smooth muscle actin (ACTA2). Nowadays, distinctively characterizing these cells requires a combination...
27 KB (3,606 words) - 00:37, 7 July 2025
original on 18 February 2019. Retrieved 17 February 2019. "#stopACTA2 events". stop ACTA2 – Save Your Internet. 24 August 2018. Archived from the original...
144 KB (12,727 words) - 16:14, 26 July 2025
Nili; et al. (11 November 2007). "Mutations in Smooth Muscle Alpha-actin (ACTA2) Lead to Thoracic Aortic Aneurysms and Dissections". Nature Genetics. 39...
29 KB (1,859 words) - 11:26, 17 July 2025
vimentin proteins but not epithelial membrane antigen (also termed MUC1), ACTA2 (also termed α-SMA), desmin, HMB-45, keratin, S100, or MLANA (also termed...
14 KB (1,640 words) - 07:41, 3 January 2024
(located on 9q22.33) TGFBR2 (located on 3p24.1) FBN1 (located on 15q21.1) ACTA2 (located on 10q23.31 MYLK (located on 3q21.1) SMAD3 (located on 15q22.33)...
6 KB (465 words) - 20:31, 5 December 2024
time they turn on the expression of vimentin, alpha smooth muscle actin (ACTA2), and fibroblast-specific protein 1 (FSP1). They also produce extracellular...
103 KB (12,464 words) - 22:35, 31 July 2025
analyses find that the LGMS tumors' spindle-shaped cells commonly express ACTA2 (also known α-smooth muscle actin) and desmin (i.e. an intermediate filament...
21 KB (2,505 words) - 21:03, 6 January 2024
MYH11 gene is responsible for the smooth muscle myosin heavy chain and ACTA2 at TAAD4 loci encodes for smooth muscle alpha-actin. A nonsynonymous amino...
29 KB (3,496 words) - 16:35, 17 July 2025
account for approximately 2% of familial TAAD. Additionally, mutations in the ACTA2 gene are thought to account for approximately 10-14% of familial TAAD. The...
10 KB (1,334 words) - 22:02, 15 July 2025
mesenchyme. These molecules include vimentin, alpha smooth muscle actin (ACTA2) and fibroblast-specific protein 1 (FSP1). EP300, MITF PIAS4, SMAD2, and...
31 KB (3,903 words) - 04:25, 15 July 2025
Their lungs had lumpy surfaces, various other malformations, low levels of ACTA2 (i.e., actin alpha 2, also termed alpha smooth muscle actin or α-SMA) in...
63 KB (8,141 words) - 17:34, 26 July 2025
Pannu H, Tran-Fadulu V, et al. (2007). "Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections". Nature Genetics. 39...
18 KB (2,400 words) - 19:13, 26 May 2025
(also termed EMA) protein in 46% of cases; desmin protein in 22% of cases; ACTA2 (also termed α-SMA), CD34, and STAT6 proteins in 10% or fewer cases, and...
12 KB (1,380 words) - 09:29, 10 February 2025
thoracic 4; 132900; MYH11 Aortic aneurysm, familial thoracic 6; 611788; ACTA2 Aortic valve disease; 109730; NOTCH1 Apert syndrome; 101200; FGFR2 Aphakia...
234 KB (18,877 words) - 18:07, 24 March 2025