CFAP298

cilia and flagella associated protein 298

Ensembl:
ENSG00000159079
UniProt:
P57076
OMIM:
615494
Synonyms:
C21ORF48, C21ORF59, CILD26, DNAAF16, FBB18

Cilia effects upon perturbation of CFAP298

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia

Phenotypes

Human ciliopathy phenotype:
primary ciliary dyskinesia

Ciliopathy associations

  • Primary Ciliary Dyskinesia

Subcellular localization

basal body, cilia, transition zone

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Cell migration & adhesion
  • Transition zone

Function

Also known as C21orf59 or kur) Mutated in primary ciliary diskinesia and regulates dynein arm assembly required for motile cilia function (24094744). Involved in cilia- associated developmental processes, recruitment of outer dynein arms required for initiating cilia motility. Studies suggest it has a role in the establishment of cilia polarity (26904945)

Model organism evidence

Mus musculus (2 references)

Cfap298 is a highly conserved gene required for ciliary motility and dynein arm assembly, with known roles in left-right (LR) patterning in zebrafish and links to human ciliopathies.

Consistently, motile cilia lining the trachea of Cfap298 Δ3aa mutants fail to beat.

PMIDs: 40955177, 40463022

Danio rerio (3 references)

Cfap298 is a highly conserved gene required for ciliary motility and dynein arm assembly, with known roles in left-right (LR) patterning in zebrafish and links to human ciliopathies.

Consistently, motile cilia lining the trachea of Cfap298 Δ3aa mutants fail to beat.

PMIDs: 40955177, 40463022, 33795825