靶标:
MYOZ2
产品别名:
C4orf5; CMH16; CS-1; FATZ-2; MYOZ2; myozenin 2; myozenin 2; myozenin-2; FATZ-related protein 2; calcineurin-binding protein calsarcin-1; muscle-specific protein; 肌原调节蛋白2(MYOZ2); 肌肉特异性蛋白MYOZ2;
背景信息:
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],