TCAP

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]

titin-cap (telethonin)

Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk.

Biological Process adult heart developmentIMP:BHF-UCL1 Publication
Biological Process cardiac muscle cell developmentIMP:BHF-UCL1 Publication
Biological Process cardiac muscle contractionIMP:BHF-UCL2 Publications
Biological Process cardiac muscle hypertrophyIMP:BHF-UCL1 Publication
Biological Process cardiac muscle hypertrophy in response to stressIMP:BHF-UCL1 Publication
Biological Process cardiac muscle tissue morphogenesisIMP:BHF-UCL1 Publication
Biological Process cardiac myofibril assemblyIMP:BHF-UCL1 Publication
Biological Process detection of mechanical stimulusTAS:BHF-UCL1 Publication
Biological Process detection of muscle stretchIMP:BHF-UCL1 Publication
Biological Process otic vesicle formationIEA:Ensembl
Biological Process protein-containing complex assemblyTAS:ProtInc1 Publication
Biological Process response to muscle stretchTAS:BHF-UCL1 Publication
Biological Process sarcomere organizationIMP:BHF-UCL1 Publication
Biological Process sarcomerogenesisIMP:BHF-UCL1 Publication
Biological Process skeletal muscle contractionIEP:BHF-UCL1 Publication
Biological Process skeletal muscle myosin thick filament assemblyIMP:BHF-UCL1 Publication
Biological Process skeletal muscle thin filament assemblyIMP:BHF-UCL1 Publication
Biological Process somitogenesisIEA:Ensembl

Cytoplasm, myofibril, sarcomere

Cardiomyopathy, familial hypertrophic 25 (CMH25):
A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Muscular dystrophy, limb-girdle, autosomal recessive 7 (LGMDR7):
An autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. Cardiac muscle is involved in a subset of patients.