Nebulin
Protein-coding gene in the species Homo sapiens
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Through Skeletal muscle, Gene and Calcium
Nebulin has also been shown to regulate actin-myosin interactions by inhibiting ATPase activity in a calcium-calmodulin sensitive manner.
Mutations in nebulin cause some cases of the autosomal recessive disorder nemaline myopathy.
A smaller member of the nebulin protein family, termed nebulette, is expressed in cardiac muscle.
Structure
The structure of the SH3 domain of nebulin was determined by protein nuclear magnetic resonance spectroscopy. The SH3 domain from nebulin is composed of 60 amino acid residues, of which 30 percent is in the beta sheet secondary structure (7 strands; 18 residues).
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Knockout phenotype
As of 2007, two knockout mouse models for nebulin have been developed to better understand its in vivo function. Bang and colleagues demonstrated that nebulin-knockout mice die postnatally, have reduced thin filament length, and impaired contractile function. Postnatal sarcomere disorganization and degeneration occurred rapidly in these mice, indicating the nebulin is essential for maintaining the structural integrity of myofibrils. Witt and colleagues had similar results in their mice, which also died postnatally with reduced thin filament length and contractile function. These nebulin-knockout mice are being investigated as animal models of nemaline myopathy.