Gene: MYOZ2
Alternate names for this Gene: C4orf5|CMH16|CS-1|FATZ-2
Gene 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.
Gene is located in Chromosome: 4
Location in Chromosome : 4q26
Description of this Gene: myozenin 2
Type of Gene: protein-coding