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Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton.
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Human Polyclonal ACTG2 Primary Antibody pour ICC, IF - ABIN407579
Lehtonen, Sipponen, Tojkander, Karikoski, Järvinen, Laing, Lappalainen, Aaltonen, Tuupanen: Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy. dans Gastroenterology 2012
Show all 3 Pubmed References
Whole exome and Sanger sequencing revealed a pathogenic variant in the ACTG2 gene in 4 out of 28 probands with chronic intestinal pseudo-obstruction and megacystis. Moreover, a mutational hotspot in the ACTG2 gene was recognized. Genetic heterogeneity is evident.
R257 variant in the ACTG2 appear to be more frequent in populations of Asian ancestry; mutation of this locus could cause alterations of the intestinal and bladder smooth muscle filaments.
ACTG2 boosts the metastatic potential of hepatocellular carcinoma in a Notch1 (Montrer NOTCH1 Anticorps)-dependent manner.
Missense variants in ACTG2 were identified in the patients with either megacystis-microcolon-intestinal hypoperistalsis syndrome or intestinal pseudo-obstruction.
A heterozygous missense variant in ACTG2 was identified that impaired actin polymerization in sporadic Megacystis microcolon intestinal hypoperistalsis syndrome.
ACTG2 is expressed in a fraction of small intestinal neuroendocrine tumors, can inhibit cell growth in vitro, and is positively regulated by miR (Montrer MLXIP Anticorps)-145.
Mutations within ACTG2 are associated with fetal megacystis in microcolon intestinal hypoperistalsis syndrome.
Phenotypic spectrum of ACTG2 missense variants involved severe pathology in multiple smooth muscle-dependent organs including the biliary tract and the uterus in the family with visceral myopathy.
gammaSMA expression in hepatocellular carcinoma is strongly correlated with the EMT (Montrer ITK Anticorps) process, HCC (Montrer FAM126A Anticorps) aggressiveness and the identification of cancer stem cells
ACTG2 encodes g2 enteric actin and is the first gene to be clearly associated with Megacystis-microcolon-intestinal hypoperistalsis syndrome, suggesting an important role for contractile proteins in enteric smooth muscle disease.
MYOCD (Montrer MYOCD Anticorps) can discriminate among several juxtaposed CArG elements, presumably through its novel partnership with NKX3.1 (Montrer NKX3-1 Anticorps), to optimally transactivate the human ACTG2 promoter
Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2\; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.
actin, gamma 2, smooth muscle, enteric
, actin, gamma-enteric smooth muscle
, smooth muscle gamma-actin
, actin-like protein
, alpha-actin 3
, smooth muscle gamma actin
, actin, gamma-enteric smooth muscle-like
, actin, gamma 2 propeptide-like
, alpha-smooth muscle actin
, gamma-enteric smooth muscle actin