Check out the December Issue of our newsletter.
NEXN (NM_144573.3) encodes nexilin, a filamentous actin-binding protein that protects cardiac Z-discs from forces generated by the sarcomere. NEXN is located at 1p31.1 and is composed of 12 coding exons. Heterozygous missense mutations and a re-occuring in-frame deletion (p.G650del) in NEXN have been described in individuals with autosomal dominant dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM) (Hassel et al. 2009. Nature Medicine. 15(11):1281-1287; Wang et al. 2010. Am J Hum Genet. 87:687-693).