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]
- Somitogenesis
- Skeletal muscle contraction
- Cardiac muscle hypertrophy
- Adult heart development
- Cardiac muscle hypertrophy in response to stress
- Muscular dystrophy, limb-girdle, autosomal recessive 7
- Cardiomyopathy, familial hypertrophic, 25
- Autosomal recessive limb-girdle muscular dystrophy type 2g
- Creatine phosphokinase, elevated serum
- Isolated elevated serum creatine phosphokinase levels
Gene Location
