# CFAP299

## Overview
CFAP299 is a gene that encodes the cilia and flagella associated protein 299, which is integral to the structure and function of cilia and flagella. These hair-like organelles are crucial for various cellular processes, including motility, fluid movement, and sensory functions. The CFAP299 protein is particularly important for the assembly and stability of axonemes, the core structural components of cilia and flagella, thereby maintaining their integrity and function (Bao2022Resequencing). In addition to its role in ciliary and flagellar function, CFAP299 is expressed in astrocytes and ependymal cells within the central nervous system, suggesting its involvement in cellular architecture and signaling pathways (Huang2022SingleCell; Fullard2021Singlenucleus). While the precise molecular activities of CFAP299 remain to be fully elucidated, its significance is underscored by its association with ciliopathies, which can lead to respiratory, reproductive, and developmental disorders.

## Structure


## Function
CFAP299, also known as cilia and flagella associated protein 299, is involved in the structure and function of cilia and flagella, which are essential for various cellular processes. In healthy human cells, CFAP299 plays a critical role in the assembly and stability of axonemes, the core structural component of cilia and flagella. This protein is crucial for maintaining the integrity and function of these hair-like structures, which are involved in cell movement, fluid flow, and sensory functions (Bao2022Resequencing).

CFAP299 has been identified as a marker gene for astrocytes, indicating its expression in these glial cells within the central nervous system (Huang2022SingleCell). Additionally, CFAP299 is expressed in ependymal cells, which line the ventricles of the brain and the central canal of the spinal cord, suggesting a role in the central nervous system's cellular architecture (Fullard2021Singlenucleus).

The protein's involvement in ciliary and flagellar function implies its participation in cellular signaling and motility, impacting organismal outcomes such as respiratory health and neurological function. However, specific molecular activities of CFAP299 in healthy human cells remain to be fully elucidated.

## Clinical Significance
Mutations or altered expression of the CFAP299 gene can lead to a group of disorders known as ciliopathies. These conditions arise from dysfunctional cilia, which are essential for various cellular processes. Ciliopathies associated with CFAP299 mutations often manifest as respiratory issues due to impaired ciliary function in the respiratory tract, leading to chronic respiratory infections and reduced mucociliary clearance. Infertility is another common consequence, as cilia play a crucial role in the movement of sperm and the function of the fallopian tubes. Developmental abnormalities can also occur, as cilia are involved in signaling pathways critical for embryonic development. These abnormalities may include skeletal defects, neural tube defects, and other congenital malformations. The clinical significance of CFAP299 highlights the importance of proper ciliary function in maintaining human health, and disruptions in this gene can have widespread and severe effects.

## Interactions



## References


[1. (Huang2022SingleCell) Jianjun Huang, Li Liu, Lingling Qin, Hehua Huang, and Xue Li. Single-cell transcriptomics uncovers cellular heterogeneity, mechanisms, and therapeutic targets for parkinson’s disease. Frontiers in Genetics, May 2022. URL: http://dx.doi.org/10.3389/fgene.2022.686739, doi:10.3389/fgene.2022.686739. This article has 6 citations and is from a peer-reviewed journal.](https://doi.org/10.3389/fgene.2022.686739)

[2. (Fullard2021Singlenucleus) John F. Fullard, Hao-Chih Lee, Georgios Voloudakis, Shengbao Suo, Behnam Javidfar, Zhiping Shao, Cyril Peter, Wen Zhang, Shan Jiang, André Corvelo, Heather Wargnier, Emma Woodoff-Leith, Dushyant P. Purohit, Sadhna Ahuja, Nadejda M. Tsankova, Nathalie Jette, Gabriel E. Hoffman, Schahram Akbarian, Mary Fowkes, John F. Crary, Guo-Cheng Yuan, and Panos Roussos. Single-nucleus transcriptome analysis of human brain immune response in patients with severe covid-19. Genome Medicine, July 2021. URL: http://dx.doi.org/10.1186/s13073-021-00933-8, doi:10.1186/s13073-021-00933-8. This article has 84 citations and is from a highest quality peer-reviewed journal.](https://doi.org/10.1186/s13073-021-00933-8)

[3. (Bao2022Resequencing) Qi Bao, Xiaoming Ma, Congjun Jia, Xiaoyun Wu, Yi Wu, Guangyao Meng, Pengjia Bao, Min Chu, Xian Guo, Chunnian Liang, and Ping Yan. Resequencing and signatures of selective scans point to candidate genetic variants for hair length traits in long-haired and normal-haired tianzhu white yak. Frontiers in Genetics, March 2022. URL: http://dx.doi.org/10.3389/fgene.2022.798076, doi:10.3389/fgene.2022.798076. This article has 13 citations and is from a peer-reviewed journal.](https://doi.org/10.3389/fgene.2022.798076)