MYOZ2

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.

Full Name

myozenin 2

Function

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.

Biological Process

Negative regulation of calcineurin-NFAT signaling cascade Source: BHF-UCL
Negative regulation of transcription by RNA polymerase II Source: BHF-UCL
Sarcomere organization Source: BHF-UCL
Skeletal muscle fiber adaptation Source: BHF-UCL
Skeletal muscle tissue development Source: BHF-UCL

Cellular Location

Z line
Note: Colocalizes with ACTN1 and PPP3CA at the Z-line of heart and skeletal muscle.

Involvement in disease

Cardiomyopathy, familial hypertrophic 16 (CMH16):
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.