Synonyms: 19 kDa sarcomeric protein ,CMD1N,CMH25,LGMD2G,Limb girdle muscular dystrophy 2G (autosomal recessive) ,T-cap,Tcap,TELE,Telethonin,TELT,Titin cap protein,Titin-cap
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.