Gene ACTA2

Also known as

AAT6, ACTSA, MYMY5

Overview

ACTA2 (Actin Alpha 2, Smooth Muscle) encodes smooth muscle alpha-actin, a major structural protein essential for smooth muscle cell contraction. This protein is predominantly expressed in vascular smooth muscle cells and is critical for maintaining blood vessel integrity and regulating blood pressure.

Mutations in ACTA2 are associated with familial thoracic aortic aneurysms and dissections (TAAD), as well as a multisystem smooth muscle dysfunction syndrome. Affected individuals may develop aneurysms, patent ductus arteriosus, stroke, moyamoya disease, and other vascular abnormalities. The condition typically follows an autosomal dominant inheritance pattern.

Individuals with pathogenic ACTA2 variants require regular cardiovascular monitoring and imaging surveillance. Early detection and appropriate management can help prevent life-threatening complications such as aortic dissection. Understanding your ACTA2 genetic status is important for cardiovascular health assessment and family screening.

NutraHacker Raw DNA Analysis Products that include this gene

• Whole Genome Sequencing Critical Genetics Report

Upload raw DNA data to get your very own analysis of gene ACTA2 through your personalized DNA reports.