Positive regulator of myogenesis. Plays a crucial and specific role in the organization of cytosolic structures in cardiomyocytes. Could play a role in mechanical stretch sensing. May be a scaffold protein that promotes the assembly of interacting proteins at Z-line structures. It is essential for calcineurin anchorage to the Z line. Required for stress-induced calcineurin-NFAT activation. Defects in CSRP3 are the cause of cardiomyopathy dilated type 1M (CMD1M). Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Defects in CSRP3 are the cause of familial hypertrophic cardiomyopathy type 12 (CMH12). Familial hypertrophic cardiomyopathy 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. Note: This description may include information from UniProtKB.
Protein type: Transcription regulation
Chromosomal Location of Human Ortholog: 11p15.1
Cellular Component: cytoskeleton; nucleus; Z disc
Molecular Function: actinin binding; protein binding; telethonin binding; zinc ion binding; structural constituent of muscle
Biological Process: cardiac muscle development; cellular calcium ion homeostasis; skeletal muscle development; protein localization in organelle; positive regulation of transcription from RNA polymerase II promoter; cardiac myofibril assembly; regulation of the force of heart contraction; cardiac muscle contraction
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.