CFAP206: Difference between revisions

Latest revision as of 02:43, 9 March 2025

CFAP206 (Cilia and Flagella Associated Protein 206) is a protein encoded by the CFAP206 gene in humans. This protein is involved in the structure and function of cilia and flagella, which are essential for cell motility and various signaling pathways.

Structure[edit]

The CFAP206 gene is located on chromosome 6 and consists of multiple exons. The gene undergoes alternative splicing, resulting in different transcript variants. The protein product of CFAP206 is characterized by specific domains that are crucial for its function in ciliary and flagellar structures.

Function[edit]

CFAP206 plays a critical role in the assembly and maintenance of cilia and flagella. These organelles are important for cell movement and sensory functions. The protein is thought to interact with other ciliary proteins to ensure proper ciliary beating and signal transduction.

Expression[edit]

The expression of CFAP206 is regulated by its promoter region, which contains various transcription factor binding sites. The gene is expressed in tissues with motile cilia, such as the respiratory epithelium and reproductive organs.

Clinical Significance[edit]

Mutations in the CFAP206 gene can lead to defects in ciliary function, resulting in conditions such as primary ciliary dyskinesia. This can cause respiratory problems, infertility, and other health issues due to impaired ciliary motility.

Evolution[edit]

The CFAP206 gene is conserved across various species, indicating its essential role in ciliary function. Comparative genomics studies have shown that the gene has homologs in many organisms, reflecting its evolutionary importance.

Phosphorylation[edit]

CFAP206 undergoes post-translational modifications, including phosphorylation. These modifications can affect the protein's function and interactions with other ciliary components.

Related Pages[edit]

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-'''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.
+'''CFAP206''' (Cilia and Flagella Associated Protein 206) is a protein encoded by the CFAP206 gene in humans. This protein is involved in the structure and function of cilia and flagella, which are essential for cell motility and various signaling pathways.
+== Structure ==
+The CFAP206 gene is located on chromosome 6 and consists of multiple exons. The gene undergoes alternative splicing, resulting in different transcript variants. The protein product of CFAP206 is characterized by specific domains that are crucial for its function in ciliary and flagellar structures.
 == 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.
+CFAP206 plays a critical role in the assembly and maintenance of [[cilia]] and [[flagella]]. These organelles are important for cell movement and sensory functions. The protein is thought to interact with other ciliary proteins to ensure proper ciliary beating and signal transduction.
-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.
+== Expression ==
+The expression of CFAP206 is regulated by its promoter region, which contains various transcription factor binding sites. The gene is expressed in tissues with motile cilia, such as the respiratory epithelium and reproductive organs.
 == 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.
+Mutations in the CFAP206 gene can lead to defects in ciliary function, resulting in conditions such as [[primary ciliary dyskinesia]]. This can cause respiratory problems, infertility, and other health issues due to impaired ciliary motility.
-== Research ==
+== Evolution ==
-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.
+The CFAP206 gene is conserved across various species, indicating its essential role in ciliary function. Comparative genomics studies have shown that the gene has homologs in many organisms, reflecting its evolutionary importance.
-== See Also ==
+== Phosphorylation ==
+CFAP206 undergoes post-translational modifications, including phosphorylation. These modifications can affect the protein's function and interactions with other ciliary components.
+== Related Pages ==
 * [[Cilia]]
 * [[Flagella]]
-* [[Ciliopathy]]
+* [[Primary ciliary dyskinesia]]
-* [[Axoneme]]
+* [[Chromosome 6 (human)]]
-* [[Microtubule]]
-== References ==
-<references/>
-[[Category:Proteins]]
 [[Category:Human proteins]]
-[[Category:Cell biology]]
+[[Category:Genes on human chromosome 6]]
-{{medicine-stub}}