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

Structure of the TCAP protein. Based on PyMOL rendering of PDB 1ya5. Emw.

Gene Location