Predicted to enable protein kinase binding activity. Involved in glomerular mesangial cell development and response to virus. Located in cytoplasm. Part of protein-containing complex. Implicated in Moyamoya disease and thoracic aortic aneurysm. Biomarker of lymphedema.
RGD Description
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]