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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. TCAP is 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 TCAP gene are associated with limb-girdle muscular dystrophy type 2G.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.
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Protein Aliases: 19 kDa sarcomeric protein; limb girdle muscular dystrophy 2G (autosomal recessive); Telethonin; teneurin C-terminal associated peptide; Titin cap protein
Gene Aliases: CMD1N; CMH25; LGMD2G; T-cap; TCAP; TELE; telethonin
UniProt ID: (Human) O15273
Entrez Gene ID: (Human) 8557
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