Check out the volume 4, February issue of our newsletter.
ACTN2 (NM_001103.1) encodes alpha-actinin-2, which is a muscle-specific alpha-actinin isoform that is expressed in both skeletal and cardiac muscle. Alpha-actinin-2 functions as an actin-binding protein, and is localized to the Z-disc, where it helps anchor the myofibrillar actin filaments. The ACTN2 gene is located at 1q42-q43 and contains 21 exons. Mutations in ACTN2 cause hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM); however, the percentage of HCM and DCM thought to be caused by ACTN2 is unknown (Chiu et al. 2010 J Am Coll Card. 55(11):1127-35).