Telethonin (TCAP) Human Recombinant Protein

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. This gene encodes a protein 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. [provided by RefSeq, Jul 2008]

Telethonin: 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.

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

Biological Process: cardiac muscle hypertrophy; adult heart development; skeletal muscle contraction; somitogenesis; muscle thin filament assembly; detection of mechanical stimulus; cardiac myofibril assembly; sarcomere organization; muscle filament sliding; muscle thick filament assembly; cardiac muscle fiber development; sarcomerogenesis; cardiac muscle morphogensis; protein complex assembly; otic vesicle formation; cardiac muscle contraction

Disease: Muscular Dystrophy, Limb-girdle, Type 2g; Cardiomyopathy, Dilated, 1n