ACTA2

Aliases 
AAT6; ACTSA; MYMY5
Chromosomal Locations 
10q23.3
The protein encoded by this gene 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. [provided by RefSeq, Nov 2008].

 

Description 
actin, aortic smooth muscle alpha 2 actin alpha-actin-2 alpha-cardiac actin growth-inhibiting gene 46 cell growth-inhibiting gene 46 protein
Tests 
Marfan Syndrome Next-Gen Sequencing Panel