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Target intelligence / Profile preview
Cilia- and flagella-associated protein 251 (CFAP251)
- Target
- CFAP251
- Molecular classification
- Other, WD repeat-containing protein family
01
Overview
Cilia- and flagella-associated protein 251 (CFAP251, also known as WD repeat-containing protein 66) is a member of the WD repeat-containing protein family involved in protein-protein complex formation[3][8]. CFAP251 plays a crucial role in the motility of spermatozoa and is implicated in the regulation of cilium motility, possibly via its role in axonemal radial spoke assembly[1][3][9]. CFAP251 is predominantly expressed in tissues rich in motile cilia, including the respiratory epithelium, fallopian tube, endometrium, and testis[7]. Mutations or polymorphisms in this gene have been associated with disorders of sperm motility and non-syndromic male infertility[3][6]. There is currently no evidence that CFAP251 serves as a direct therapeutic target, nor are there known drugs that specifically interact with it.
- Other names
- WD repeat-containing protein 66WDR66
02
Biological functions
Sperm motilityRegulation of cilium motilityAssembly of the axonemal radial spokesProtein-protein complex assembly
03
Disease associations
Male infertility (sperm motility disorder, spermatogenic failure 33)Other
04
Biomarkers
Variants in CFAP251 can serve as biomarkers for non-syndromic male infertility due to sperm motility disorder
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