• Thumbnail for ACTA2
    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
  • Thumbnail for Cirrhosis
    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
  • Thumbnail for Familial thoracic aortic aneurysm
    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
  • Thumbnail for Moyamoya disease
    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
  • Thumbnail for Myofibroblast
    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
  • Thumbnail for Actin
    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
  • Thumbnail for Transforming growth factor beta
    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
  • Thumbnail for T98G
    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
  • Thumbnail for Directive on Copyright in the Digital Single Market
    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
  • Thumbnail for Hazim J. Safi
    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
  • Thumbnail for Familial thoracic aortic aneurysm and aortic dissection
    (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
  • Thumbnail for Catenin beta-1
    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
  • Thumbnail for Fibrillin-1
    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
  • Thumbnail for Myosin-11
    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
  • Thumbnail for Lymphoid enhancer-binding factor 1
    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
  • Thumbnail for PDPN
    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
  • Thumbnail for Familial aortic dissection
    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