CFAP298 gene

cilia and flagella associated protein 298

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Ciliary dyskinesia, primary, 26

From UniProt:

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. [MIM:615500]

Cytogenetic Location: 21q22.11, which is the long (q) arm of chromosome 21 at position 22.11

Molecular Location: base pairs 32,599,354 to 32,612,871 on chromosome 21 (Homo sapiens Updated Annotation Release 109.20200228, GRCh38.p13) (NCBI)

Cytogenetic Location: 21q22.11, which is the long (q) arm of chromosome 21 at position 22.11
  • C21orf48
  • C21orf59
  • CILD26
  • FBB18
  • Kur