Gene:
nebulin
Gene ID:
195862
Symbol:
NEB
Species:
1000
Description:
Nebulin is a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein and its size varies from 600 to 800 kD in a manner that is tissue-, species-,and developmental stage-specific. The 6,669-residue predicted protein, the short form, contains 185 copies of 35-amino acid modules that can be classified into 7 types. It is suggested that alternative splicing may explain the developmental or tissue-specific size variants of nebulin. However, the nucleotide sequence information is not available for other spliced products. The mutations in the NEB gene are associated with recessive nemaline myopathy.