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 ?
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.