CFAP298
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).
Involvement in disease
Ciliary dyskinesia, primary, 26
CILD26
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.
None
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.
Sequence Similarities
Belongs to the CFAP298 family.
Cellular localization
- Cytoplasm
- Cytoplasm
- Cytoskeleton
- Cilium basal body
- Partially colocalized with SASS6 in cytoplasmic puncta, suggesting a centrosomal localization.
Alternative names
C21orf48, C21orf59, CFAP298, Cilia- and flagella-associated protein 298, Protein kurly homolog