Products

Enzyme-linked Immunoabsorbent Assay

Western Blot (Recombinant protein)

Antibody Production

Protein Array

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

NEB

Gene Alias

DKFZp686C1456, FLJ11505, FLJ36536, FLJ39568, FLJ39584, NEB177D, NEM2

Gene Description

nebulin

Omim ID

Gene Ontology

Gene Summary

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. [provided by RefSeq

Other Designations

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