功能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.
组织特异性Expressed specifically in heart and skeletal muscle.
疾病相关Defects in MYOZ2 are the cause of familial hypertrophic cardiomyopathy type 16 (CMH16) [MIM:613838]. 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.
序列相似性Belongs to the myozenin family.
细胞定位Cytoplasm > myofibril > sarcomere > Z line. Colocalizes with ACTN1 and PPP3CA at the Z-line of heart and skeletal muscle.