a muscle assembly regulating factor that interacts with the giant kinase titin. Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. Telethonin is found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. Note: This description may include information from UniProtKB.
Protein type: Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 17q12
Cellular Component: I band; Z disc; cytosol
Molecular Function: protein binding, bridging; protein binding; structural constituent of muscle; titin binding; FATZ binding
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.