Nebulin Antibody

Nebulin is a large muscle protein involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Nebulin binds and stabilizes F-actin. Defects in nebulin are the cause of nemaline myopathy type 2 (NEM2). NEM2 is a form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread or rod-like structures in muscle fibers on histologic examination.