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The protein encoded by MYOZ2 belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types.
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analysis of post-translational regulation of calsarcin-1 during pressure overload-induced cardiac hypertrophy
calsarcin-1 negatively modulates the functions of calcineurin.
study defined proximal promoter region of calsarcin-1 (CS-1)& calsarcin-2 (CS-2 (show MYOZ1 Antibodies))genes; data suggest NF-kappaB (show NFKB1 Antibodies) is required for transcription of CS-1 (show CAT Antibodies) gene, but not CS-2 (show MYOZ1 Antibodies)
The sarcomeric protein CS1 prevents Ang-II-induced cardiomyocyte hypertrophy at least in part via inhibition of calcineurin signaling.
MYOZ2 mutations are rare causes of familial familial hypertrophic cardiomyopathy.
may play a modifying role in hypertrophic cardiomyopathy by affecting the penetrance or degree of performance of the MYH7 (show MYH7 Antibodies) gene
The cardiac phenotype in hypertrophic cardiomyopathy caused by MYOZ2 mutations might be independent of calcineurin activity in the heart.
Mutations in MYOZ1 (show MYOZ1 Antibodies) and MYOZ2 are at least very rare events as an underlying disease mechanism for idiopathic or familial DCM
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.
, myozenin 2
, FATZ-related protein 2
, myozenin-like 2
, calcineurin-binding protein calsarcin-1
, muscle-specific protein