CFAP53

CFAP53 is a protein that in humans is encoded by the CFAP53 gene. This protein is a component of the cilia and flagella associated protein group, playing a crucial role in the formation and function of these cellular structures.

Function

The CFAP53 protein is involved in the formation and function of cilia and flagella. These are hair-like structures that protrude from the surface of many cellular types and are involved in a variety of cellular processes, including locomotion, sensory perception, and signal transduction. Mutations in the CFAP53 gene can lead to defects in cilia and flagella, which can result in a variety of ciliopathies.

Clinical significance

Mutations in the CFAP53 gene have been associated with primary ciliary dyskinesia, a rare genetic disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and infertility. This is due to the role of CFAP53 in the formation and function of cilia and flagella, which are essential for normal cellular function.

Further reading

• "CFAP53 regulates mammalian cilia-type motility patterns through differential localization modes." Journal of Cell Biology, 2019.
• "Mutations in CFAP53 cause primary ciliary dyskinesia." American Journal of Human Genetics, 2018.

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