Aliases for TCAP Gene
External Ids for TCAP Gene
Previous Symbols for TCAP Gene
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]
GeneCards Summary for TCAP Gene
TCAP (Titin-Cap) is a Protein Coding gene. Diseases associated with TCAP include tcap-related familial hypertrophic cardiomyopathy and muscular dystrophy, limb-girdle, type 2g. Among its related pathways are Striated Muscle Contraction and Striated Muscle Contraction. GO annotations related to this gene include ion channel binding and structural constituent of muscle.
UniProtKB/Swiss-Prot for TCAP Gene
Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk