The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. [provided by RefSeq, Aug 2011]
Forensic Context
A study in mice demonstrated that the MYOZ2 is associated with chromatin immunoprecipitation clusters enriched in down-regulated long non-coding RNAs following myocardial infarction [Ounzain et al. DOI:10.1093/eurheartj/ehu180]. In human forensic research, the MYOZ2 was listed among differentially expressed cardiac-related genes in sudden unexplained death cases, with mutations reported in ion channelopathies or cardiomyopathies [Neubauer et al. DOI:10.1007/S00414-025-03414-4].