CFAP52

cilia and flagella associated protein 52

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000166596
UniProt:: Q8N1V2
OMIM:: 609804
Synonyms:: FLJ37528, WDR16, WDRPUH

Ciliogenesis screen results (1 screens)

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

References: PMID:35637434, PMID:25469542

Subcellular localization

cilia, basal body

References: PMID:41410385, PMID:42010243, PMID:41005307, PMID:17394468

Functional category

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

Function

Also called WDR16. Wdr16 can be considered a differentiation marker of kinocilia‐bearing cells. In the

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