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ACTA2 / Smooth Muscle Actin belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Defects in this gene cause aortic aneurysm familial thoracic type 6. Multiple alternatively spliced variants, encoding the same protein, have been identified.
|Gene Name:||actin, alpha 2, smooth muscle, aorta|
|Synonyms:||ACTA2, ACTVS, Alpha-actin-2, Alpha-cardiac actin, AAT6, Actin, aortic smooth muscle, ACTSA, Smooth Muscle Actin, MYMY5, SMA|
|Target Sequences:||NM_001613 NP_001604.1 P62736|
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