Aliases for CFAP298 Gene
External Ids for CFAP298 Gene
Previous HGNC Symbols for CFAP298 Gene
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. [provided by RefSeq, Apr 2017]
GeneCards Summary for CFAP298 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.
UniProtKB/Swiss-Prot for CFAP298 Gene
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).