DOK7 : docking protein 7
Description
The DOK7 gene provides instructions for making a protein called docking protein 7. This protein plays a critical role in the development and function of skeletal muscles, the muscles responsible for movement. DOK7 protein helps to connect the muscle fibers to the nerve cells that control their contractions. Mutations in the DOK7 gene can disrupt this connection, leading to various muscle disorders. Understanding the role of DOK7 is essential for developing targeted therapies for these debilitating conditions.
Associated Diseases
- Congenital Myasthenic Syndromes (CMSs): A group of inherited disorders that affect the transmission of signals from nerves to muscles, leading to muscle weakness and fatigue.
- Autosomal Recessive Distal Myopathy: A form of muscular dystrophy characterized by progressive weakness in the distal muscles of the limbs.
Did you know?
Mutations in the DOK7 gene are responsible for the most common form of congenital myasthenic syndrome.
