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