This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome. [provided by RefSeq, Sep 2017]
- Muscle contraction
- Regulation of blood pressure
- Response to virus
- Positive regulation of gene expression
- Vascular smooth muscle contraction
- Multisystemic smooth muscle dysfunction syndrome
- Aortic aneurysm, familial thoracic 6
- Moyamoya disease 5
- Aortic aneurysm, familial thoracic 2
ACTA2 Localizations – Subcellular Localization Database
Gene Location
