CFAP298
cilia and flagella associated protein 298
Tier: Gold Standard Ciliary Genes
- Ensembl:
- ENSG00000159079
- UniProt:
- P57076
- OMIM:
- 615494
- Synonyms:
- C21ORF48, C21ORF59, CILD26, DNAAF16, FBB18, FLJ20467, KUR
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
References: PMID:24094744
Subcellular localization
basal body, cilia, transition zone
References: PMID:41410385, PMID:41005307, PMID:26904945
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)