Nebulette

Nebulette is a protein that in humans is encoded by the NEBL gene. It is a member of the Nebulin family of actin-binding proteins that includes Nebulin and Nebulette. Nebulette is expressed in cardiac muscle and is thought to play a key role in maintaining the structural integrity of the sarcomere, the basic unit of muscle contraction.

Function

Nebulette is an actin-binding protein that is thought to regulate the length of thin filaments in cardiac muscle. It is similar in structure to nebulin, but is much shorter and has a distinct expression pattern. Nebulette is found at the Z-lines of sarcomeres, where it is thought to anchor thin filaments and connect them to the Z-line structure.

Clinical significance

Mutations in the NEBL gene have been associated with idiopathic dilated cardiomyopathy (IDC), a condition characterized by enlargement of the heart that can lead to heart failure. Studies have shown that these mutations can disrupt the normal function of nebulette, leading to abnormalities in sarcomere structure and function.

See also

• Nebulin
• Actin
• Sarcomere
• Idiopathic dilated cardiomyopathy

References

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External links

• NEBL at the National Center for Biotechnology Information

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