Gene: TCAP
Alternate names for this Gene: CMD1N|CMH25|LGMD2G|LGMDR7|T-cap|TELE|telethonin
Gene Summary: 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.
Gene is located in Chromosome: 17
Location in Chromosome : 17q12
Description of this Gene: titin-cap
Type of Gene: protein-coding