{"symbol":"ACTA2","synonyms":["MYMY5","AAT6","ACTSA"],"name":"actin, alpha 2, smooth muscle, aorta","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]","ncbiEntrezGeneId":59,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/59","proteins":[{"symbol":"ACTA_HUMAN","href":"/api/1.0/protein/ACTA_HUMAN"}],"hgncRootFamilies":[{"name":"Actins (ACT)","href":"/api/1.0/gene_family/Actins+%28ACT%29"}]}