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.