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Protein Page:
Telethonin (human)

Overview
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. Note: This description may include information from UniProtKB.
Protein type: Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 17q12
Cellular Component: cytosol; I band; Z disc
Molecular Function: FATZ binding; protein binding; protein binding, bridging; structural constituent of muscle; titin binding
Biological Process: adult heart development; cardiac muscle contraction; cardiac muscle fiber development; cardiac muscle hypertrophy; cardiac muscle morphogensis; cardiac myofibril assembly; detection of mechanical stimulus; muscle filament sliding; muscle thick filament assembly; muscle thin filament assembly; protein complex assembly; sarcomere organization; sarcomerogenesis; skeletal muscle contraction
Disease: Cardiomyopathy, Dilated, 1n; Muscular Dystrophy, Limb-girdle, Type 2g
Reference #:  O15273 (UniProtKB)
Alt. Names/Synonyms: 19 kDa sarcomeric protein; CMD1N; LGMD2G; limb girdle muscular dystrophy 2G (autosomal recessive); T-cap; TCAP; TELE; Telethonin; TELT; Titin cap protein; titin-cap (telethonin)
Gene Symbols: TCAP
Molecular weight: 19,052 Da
Basal Isoelectric point: 5.2  Predict pI for various phosphorylation states
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Telethonin

Protein Structure Not Found.
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