Gene Symbol | ACTA2 |
Entrez Gene ID | 59 |
Full Name | actin, alpha 2, smooth muscle, aorta |
Synonyms | ACTSA |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Aortic aneurysm, familial thoracic 6, 611788 (3); Multisystemic smooth muscle dysfunction syndrome, 613834 (3); Moyamoya disease 5, 614042 (3) |