Nebulin
From Wikipedia, the free encyclopedia
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 protein 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.