Nebulin (NEB)

Nebulin is a giant cytoskeletal protein of approximately 600–900 kDa that forms an integral part of the skeletal muscle thin filament. Composed of a high number of repeating actin-binding domains, nebulin stabilizes actin filaments, specifies thin filament lengths, and organizes the contractile machinery of muscle cells. Its C-terminal SH3 domain is embedded in the sarcomere Z-disc, where it binds various partners, including α-actinin and titin, contributing to Z-disc structure and myofibril alignment. Mutations in the NEB gene cause nemaline myopathy (often designated as "nemaline myopathy type 2"), indicating the essential role of nebulin in muscle development and function. Beyond its structural roles, nebulin has been implicated in actin nucleation (with N-WASP) and calcium homeostasis in muscle fibers. Its function and expression are largely restricted to skeletal muscle, and it is not a recognized druggable or pharmacological target at this time.

Other names

NEBNEB177Dnemaline myopathy type 2AMC6NEM2

Not applicable