TCAP
Function
Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Heart and skeletal muscle.
Cellular localization
- Cytoplasm
- Myofibril
- Sarcomere
Alternative names
Telethonin, Titin cap protein, TCAP