CFAP52
cilia and flagella associated protein 52
- Ensembl:
- ENSG00000166596
- UniProt:
- Q8N1V2
- OMIM:
- 609804
- Synonyms:
- FLJ37528, WDR16, WDRPUH
Cilia effects upon perturbation of CFAP52
Ciliogenesis screen results (1 screen)
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Phenotypes
- Human ciliopathy phenotype:
- heterotaxy, visceral, 9, autosomal, with male infertility
Ciliopathy associations
- Primary Ciliary Dyskinesia
Subcellular localization
cilia
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
- T cell biology
- Reproduction & sperm
- Cell migration & adhesion
Function
Also called WDR16. Wdr16 can be considered a differentiation marker of kinocilia鈥恇earing cells. In the
Model organism evidence
Mus musculus (3 references)
Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development.
The cilia and flagella associated protein CFAP52 orchestrated with CFAP45 is required for sperm motility in mice.