ACTN2

Description 
actinin, alpha 2


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). 

Aliases 
CMD1AA
Chromosomal Locations 
1q42-q43