MYOZ2
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.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the myozenin family.
Tissue Specificity
Expressed specifically in heart and skeletal muscle.
Cellular localization
- Cytoplasm
- Myofibril
- Sarcomere
- Z line
- Colocalizes with ACTN1 and PPP3CA at the Z-line of heart and skeletal muscle.
Alternative names
C4orf5, MYOZ2, Myozenin-2, Calsarcin-1, FATZ-related protein 2