Gene Symbol | MYOZ2 |
Entrez Gene ID | 51778 |
Full Name | myozenin 2 |
Synonyms | C4orf5,CMH16,CS-1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Cardiomyopathy, hypertrophic, 16, 613838 (3) |