TCAP
Description
The TCAP gene (Titin Cap) encodes a protein crucial for the structural integrity and function of skeletal muscles. TCAP interacts with titin, a giant protein responsible for muscle elasticity and passive tension. TCAP‘s role is to cap the N-terminus of titin, preventing its degradation and ensuring proper muscle fiber assembly. Mutations in TCAP can lead to a range of muscular disorders, affecting muscle strength, flexibility, and overall health.
Associated Diseases
- Limb-girdle muscular dystrophy type 2J (LGMD2J)
- Distal myopathy with rimmed vacuoles (DMRV)
- Congenital fiber type disproportion (CFTD)
- Myofibrillar myopathy (MFM)
Did you know?
TCAP is one of the smallest genes associated with muscular dystrophies.
