CFAP206

CFAP206 (Cilia and Flagella Associated Protein 206) is a protein that in humans is encoded by the CFAP206 gene. This protein plays a crucial role in the structure and function of cilia and flagella, which are hair-like structures that protrude from the surface of many eukaryotic cells. Cilia and flagella are essential for various cellular processes, including motility, sensory perception, and signal transduction.

Function

CFAP206 is involved in the assembly and maintenance of the axoneme, the core structure of cilia and flagella that is responsible for their bending movements. The axoneme's architecture is highly conserved across species and consists of a series of microtubules arranged in a specific pattern. CFAP206 contributes to the stability and proper organization of these microtubules, ensuring the functional integrity of cilia and flagella.

In addition to its structural role, CFAP206 may also participate in the signaling pathways associated with ciliary functions. Cilia are known to play a key role in various signaling processes, including those related to development and homeostasis. By maintaining the proper structure of cilia, CFAP206 indirectly supports their ability to act as signaling hubs.

Clinical Significance

Mutations in the CFAP206 gene have been linked to ciliopathies, a group of disorders arising from defects in cilia structure or function. These conditions can affect multiple organ systems, leading to a wide range of symptoms such as respiratory problems, reduced fertility, kidney disease, and retinal degeneration. Understanding the role of CFAP206 in ciliary function could provide insights into the mechanisms underlying these diseases and potentially lead to new therapeutic approaches.

Research

Research on CFAP206 is ongoing, with studies focusing on its precise role in cilia and flagella, the mechanisms by which it contributes to their structure and function, and how mutations in the CFAP206 gene lead to clinical manifestations. Animal models, including mice and zebrafish, are commonly used to study the in vivo effects of CFAP206 dysfunction.

See Also

• Cilia
• Flagella
• Ciliopathy
• Axoneme
• Microtubule