CFAP298

This gene encodes a protein that plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Naturally occuring readthrough transcription occurs from this locus to the downstream t-complex 10 like (TCP10L) gene. CFAP298 (Cilia And Flagella Associated Protein 298) is a Protein Coding gene. Diseases associated with CFAP298 include Ciliary Dyskinesia, Primary, 26 and Kartagener Syndrome. An important paralog of this gene is ENSG00000265590.

Full Name

Cilia And Flagella Associated Protein 298

Function

Plays a role in motile cilium function, possibly by acting on outer dynein arm assembly (PubMed:24094744).
Seems to be important for initiation rather than maintenance of cilium motility (By similarity).
Required for correct positioning of the cilium at the apical cell surface, suggesting an additional role in the planar cell polarity (PCP) pathway (By similarity).
May suppress canonical Wnt signaling activity (By similarity).

Biological Process

Cilium assembly Source: UniProtKB
Regulation of cilium movement Source: UniProtKB

Cellular Location

Cytoplasm; Cilium basal body.Partially colocalized with SASS6 in cytoplasmic puncta, suggesting a centrosomal localization.

Involvement in disease

Ciliary dyskinesia, primary, 26 (CILD26): The disease is caused by variants affecting the gene represented in this entry. Cilia in nasal epithelia show the absence of both outer and inner dynein-arm components and complete paralysis. A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.