{"symbol":"TCAP","synonyms":["TELE","TELETHONIN","LGMD2G","CMH25","CMD1N","LGMDR7","T-CAP"],"name":"titin-cap","description":"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]","ncbiEntrezGeneId":8557,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/8557","proteins":[{"symbol":"TELT_HUMAN","href":"/api/1.0/protein/TELT_HUMAN"}],"hgncRootFamilies":[]}