ACTA2

(redirected from alpha-cardiac actin)

ACTA2

A gene on chromosome 10q23.3 that encodes alpha actin 2, which is expressed in skeletal muscle.
 
Molecular pathology
ACTA2 mutations cause multisystemic smooth muscle dysfunction syndrome and aortic aneurysm familial forensic type 6.
References in periodicals archive ?
Compared to the control group, the expression of beta-catenin mRNA declined (Figure 4(a)), while the expression of cTnT, alpha-cardiac actin, and GSK-3beta mRNA increased in the inducing groups (Figures 4(b), 4(c), and 5(a)).
The RNA expression of cardiomyocyte-related markers such as cTnT, alpha-cardiac actin, mef-2c, and Cx43 in the 5-aza+salB group is much higher than the 5-aza group and salB group; the same occurs in the 5-aza+salB+CLM group, the 5-aza+CLM group, and the salB+CLM group.
(11) At least nine genes have been purported to harbor mutations in cases of isolated LVNCC, including genes that code for cardiac muscular cytoskeletal proteins and the alpha-cardiac actin (ACTC) gene, which has also been a gene implicated in other cardiomyopathies such as familial hypertrophic cardiomyopathy.