CFAP65

cilia and flagella associated protein 65

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000181378
UniProt:
Q6ZU64
OMIM:
614270
Synonyms:
CCDC108, DKFZP434O0527, MGC35338

Cilia effects upon perturbation of CFAP65

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
No effect

Ciliogenesis screen results (1 screens)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Ciliopathy associations

  • Male Infertility

References: PMID:39853433

Subcellular localization

flagella, axoneme, central apparatus

References: doi:10.7554/eLife.110601, PMID:31413122, PMID:31501240, PMID:31571197

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Reproduction & sperm
  • Cell migration & adhesion

Function

Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and multiple malformations of the sperm flagella (31413122, 31501240, 31571197) Localizes to the axonemal central lumen as part of the C2a projection of the motile-cilia central apparatus; knockout destabilizes the C2a projection and central-pair microtubules (Lyu et al. 2026, eLife, DOI 10.7554/eLife.110601).