What is Nebulin in actin?

Nebulin is an actin-binding protein which is localized to the thin filament of the sarcomeres in skeletal muscle. It is a very large protein (600–900 kDa) and binds as many as 200 actin monomers. A smaller member of the nebulin protein family, termed nebulette, is expressed in cardiac muscle.

Is Nebulin a structural protein?

In this review, we firstly discussed nebulin’s role as a structural component of the thin filament and the Z-disk, regulating the length and the mechanical properties of the thin filament as well as providing stability to myofibrils by interacting with structural proteins within the Z-disk.

Is Nebulin a tropomyosin?

Proteins That Bind the Side of Actin Filaments Tropomyosin, nebulin, and caldesmon are extended proteins that bind along the sides of actin filaments.

Is Nebulin a contractile protein?

Nebulin-free muscle fibers not only differ in thin-filament length but also have altered contractile properties(Fig. 2C). Studies on nebulin-deficient fibers indicate a severely reduced isometric force production (11, 12, 20–22).

Where is nebulin located?

Genetic structure of nebulin In humans, the NEB gene, which is located on chromosome 2 (Stedman et al. 1988; Zeviani et al. 1988), consists of 183 exons spanning 249 kb in the human genome (Donner et al. 2004).

What is the function of nebulin?

Role in thin filament architecture: nebulin stabilizes actin filaments, thereby regulating filament length. A plethora of evidence indicates that nebulin regulates thin filament length. Analysis of nebulin-deficient mice revealed the importance of nebulin in maintaining proper skeletal muscle function in vivo.

How many amino acids are in nebulin?

6669 amino acids
Nebulin, encoded by NEB, is a giant skeletal muscle protein of about 6669 amino acids which forms an integral part of the sarcomeric thin filament.

Is nebulin in thin filaments?

Nebulin is a giant actin-binding protein in skeletal muscle which localizes along most of the length of the thin filament. Genetic alterations or reduction in the expression level of nebulin are accompanied by dramatic loss in muscle force, resulting in muscle weakness and severe skeletal muscle myopathy.

What is the function of nebulin protein?

How many amino acids does nebulin have?

What does nebulin do in the sarcomere?

Nebulin binds polymeric actin and acts as a template protein for the thin filament in the skeletal muscle sarcomere (Jin and Wang 1991a, b).

Where is nebulin found?

skeletal muscle
Abstract. Nebulin is a giant sarcomeric protein that spans along the actin filament in skeletal muscle, from the Z-disk to near the thin filament pointed end.

What is the function of the nebulin 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.

What is the cytogenetic and genomic coordinates of nebulin?

Cytogenetic location: 2q23.3 Genomic coordinates (GRCh38): 2:151,485,333-151,734,475 (from NCBI) Nebulin is a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle.

What are the most common mutations in the nebulin gene?

In a detailed review and update of 159 families with mutations in the nebulin gene associated with myopathies, Lehtokari et al. (2014) found that the most common types of mutations were splice-site mutations (34%), followed by frameshift (32%), nonsense (23%), and finally missense (7%).

Is nebulin a myofibrillar protein?

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.