American Thoracic Society Conference
(Booth # 1146) in Philadelphia, PA
5/19 - 5/23
This gene is composed of 21 exons and codes for a protein in the spectrin gene superfamily, which represents a diverse group of cytoskeletal proteins. Alpha actinin is an actin-binding protein that has numerous rolls depending on its location. Its functions range from anchoring intra-cellular structures in the cytoskeleton in muscle and non-muscle, direct interaction with ion channels in cardiomyocytes and serves as a bridge between calcium channels. Mutations in this gene are associated with dilated cardiomyopathy (DCM), and hypertrophic cardiomyopathy (HCM).