MYBPC2

MYBPC2 is a gene that encodes the protein Myosin Binding Protein C, Fast Type in humans. This protein is a member of the Myosin Binding Protein C (MyBPC) family, which plays a crucial role in muscle contraction. The MYBPC2 gene is specifically expressed in fast-twitch skeletal muscle fibers, contributing to their unique contractile properties.

Function

The protein encoded by the MYBPC2 gene is known as Myosin Binding Protein C, Fast Type. This protein is a component of the thick filament in skeletal muscle fibers, where it binds to myosin, one of the primary proteins involved in muscle contraction. By binding to myosin, MyBPC can modulate the interaction between myosin and actin, another key protein in muscle contraction. This modulation is thought to be critical for the regulation of muscle contraction speed and force.

Clinical Significance

Mutations in the MYBPC2 gene have been associated with a form of distal arthrogryposis, a condition characterized by joint deformities (contractures) that restrict movement in certain parts of the body. Specifically, these mutations have been linked to a subtype of the condition known as DA2B. However, the exact relationship between MYBPC2 mutations and distal arthrogryposis is still under investigation.

See Also

• Myosin-binding protein C
• Distal arthrogryposis
• Muscle contraction