DNAAF2

DNAAF2 (also known as Kurly) is a protein that in humans is encoded by the DNAAF2 gene. This protein is involved in the process of cilia and flagella formation, which are essential components of many types of cells. Mutations in this gene have been associated with a variety of genetic disorders, including Primary Ciliary Dyskinesia (PCD).

Function

The DNAAF2 protein is a component of the dynein molecular motor that moves along microtubules in cells. It is involved in the assembly of the dynein arms, which are necessary for the movement of cilia and flagella. These structures are important for cell movement and for the transport of materials within cells.

Clinical Significance

Mutations in the DNAAF2 gene can cause Primary Ciliary Dyskinesia, a rare genetic disorder. PCD is characterized by chronic respiratory tract infections, abnormally positioned internal organs, and infertility. The disorder is due to abnormal cilia and flagella movement, which is caused by defects in the dynein arms.

Research

Research into the DNAAF2 gene and its associated protein may lead to new treatments for diseases caused by cilia and flagella defects. Understanding the function of this gene could also provide insights into the basic biology of cell movement and material transport.

See Also

• Primary Ciliary Dyskinesia
• Dynein
• Cilia
• Flagella

References

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