CFAP206

Overview of CFAP206 gene and its role in human biology

CFAP206

CFAP206 (Cilia and Flagella Associated Protein 206) is a protein-coding gene in humans that plays a crucial role in the structure and function of cilia and flagella. These are hair-like structures that protrude from the surface of many eukaryotic cells and are essential for cell movement and signaling.

Function

The CFAP206 protein is involved in the assembly and maintenance of cilia and flagella. These structures are vital for various cellular processes, including locomotion, sensory reception, and signal transduction. In particular, CFAP206 is thought to be a component of the axoneme, the central shaft of cilia and flagella, which is composed of microtubules and associated proteins.

Structure

CFAP206 is a large protein that contains several domains important for its function. These domains facilitate interactions with other proteins and structural components within the cilia and flagella. The precise structure of CFAP206 and its interactions with other proteins are subjects of ongoing research.

Clinical Significance

Mutations in the CFAP206 gene can lead to defects in cilia and flagella, resulting in a group of disorders known as ciliopathies. These disorders can affect multiple organ systems and lead to symptoms such as chronic respiratory infections, infertility, and situs inversus.

Research

Research on CFAP206 is focused on understanding its role in ciliary function and its involvement in disease. Studies often use model organisms, such as zebrafish and mice, to investigate the effects of CFAP206 mutations and to explore potential therapeutic interventions.

Images

File:Cilia diagram.png

Diagram of a cilium showing the axoneme structure.

File:Flagella structure.png

Structure of a flagellum highlighting the role of associated proteins.

Related pages

• Cilia
• Flagella
• Ciliopathy
• Axoneme