External Ids for NEB Gene
Previous HGNC Symbols for NEB Gene
Previous GeneCards Identifiers for NEB Gene
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, Sep 2009]
GeneCards Summary for NEB Gene
NEB (Nebulin) is a Protein Coding gene. Diseases associated with NEB include Nemaline Myopathy 2 and Severe Congenital Nemaline Myopathy. Among its related pathways are Cardiac conduction and Striated Muscle Contraction. Gene Ontology (GO) annotations related to this gene include actin binding and structural constituent of muscle. An important paralog of this gene is NRAP.
UniProtKB/Swiss-Prot for NEB Gene
This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin.