Profil protéine

This gene encodes nebulin, 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. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy.

Gene names and symbols associated with anti-Nebulin (NEB) Anticorps

• nebulin (neb) anticorps
• nebulin (NEB) anticorps
• nebulin (Neb) anticorps
• nebulin (LOC100516703) anticorps

• AI595938 anticorps
• im:6904860 anticorps
• im:7001777 anticorps
• im:7144538 anticorps
• im:7150492 anticorps
• Afficher tous les alias de synonymes
• NEB anticorps
• NEB177D anticorps
• NEM2 anticorps
• si:ch211-168m7.5 anticorps
• wu:fc33b04 anticorps

Protein level used designations for anti-Nebulin (NEB) Anticorps

nebulin , nemaline myopathy type 2