MYOZ2 Antibody – Mouse Monoclonal

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]

MYOZ2: Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma- filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis. Defects in MYOZ2 are the cause of familial hypertrophic cardiomyopathy type 16 (CMH16). CMH16 is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Belongs to the myozenin family.

Protein type: Contractile; Cytoskeletal

Chromosomal Location of Human Ortholog: 4q26-q27

Cellular Component: sarcomere; Z disc; actin cytoskeleton

Molecular Function: protein binding; telethonin binding; actin binding; protein phosphatase 2B binding

Disease: Cardiomyopathy, Familial Hypertrophic, 16