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]
- Negative regulation of transcription by RNA polymerase II
- Skeletal muscle tissue development
- Biological_process
- Skeletal muscle fiber adaptation
- Sarcomere organization
- Cardiomyopathy, familial hypertrophic, 16
- Werdnig-hoffman disease
- Hypertrophic cardiomyopathy
- Restrictive cardiomyopathy
- Pleomorphic adenoma
Gene Location
