Immunogen sequence: MLSHNTMMKQ RKQQATAIMK EVHGNDVDGM DLGKKVSIPR DIMLEELSHL SNRGARLFKM RQRRSDKYTF ENFQYQSRAQ INHSIAMQNG KVDGSNLEGG SQQAPLTPPN TPDPRSPPNP DNIAPGYSGP LKEIPPEKFN TTAVPKYYQS PWEQAISNDP ELLEALYPKL FKPEGKAELP DYRSFNRVAT PFGGFEKASR MVKFKVPDFE LLLLTDPRFM SFVNPLSGRR SFNRTPKGWI SENIPIVITT EPTDDTTVPE SEDL; Positive Samples: Mouse heart, Mouse skeletal muscle, Rat skeletal muscle; Cellular Location: Cytoplasm, Z line, myofibril, sarcomere
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.
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Protein Aliases: calcineurin-binding protein calsarcin-1; Calsarcin-1; FATZ-related protein 2; muscle-specific protein; MYOZ2; Myozenin-2; myozenin-like 2
Gene Aliases: 1110012I24Rik; C4orf5; CMH16; CS-1; Fatz-2; MYOZ2; Myozl2
Molecular Function: structural protein