Nebulin
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| nebulin
| |
| Identifiers | |
| Symbol(s) | NEB NEM2 |
| Entrez | 4703 |
| OMIM | 161650 |
| RefSeq | NM_004543 |
| UniProt | P20929 |
| Other data | |
| Locus | Chr. 2 q22 |
Nebulin is an actin-binding molecule which is localized to the I-band in skeletal muscle. It is a very large protein (600-900 kDa) and binds as many as 200 actin monomers. Its length is proportional to thin filament length.
The interaction of nebulin with actin is Calcium-Calmodulin sensitive.
Mutations in nebulin cause some cases of the autosomal recessive disorder nemaline myopathy.
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