Aliases for TCAP Gene
External Ids for TCAP Gene
Previous HGNC Symbols for TCAP Gene
Previous GeneCards Identifiers 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 Cardiomyopathy, Familial Hypertrophic, 25 and Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7. Among its related pathways are Cardiac conduction and Striated Muscle Contraction. Gene Ontology (GO) annotations related to this gene include ion channel binding and structural constituent of muscle.
UniProtKB/Swiss-Prot Summary for TCAP Gene
Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk.