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TCAP


Official Full Name
titin-cap
Organism
Homo sapiens
Gene ID
8557
Background
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]
Synonyms
TELE; CMD1N; CMH25; T-cap; LGMD2G; LGMDR7; telethonin

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