ACTA2

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 ?
During the study, the researchers examined 127 members of 20 families from around the world who had ACTA2 mutations.