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Target intelligence / Profile preview
Cilia- and flagella-associated protein 44 (CFAP44)
- Target
- CFAP44
- Molecular classification
- Other, WD repeat-containing protein (protein superfamily), Structural axonemal protein
01
Overview
Cilia- and flagella-associated protein 44 (CFAP44) is a structural protein essential for the proper organization and function of the axoneme, the core structural component of cilia and flagella. This protein is encoded by the CFAP44 gene located on human chromosome 3 and is strongly expressed in testicular tissue where it localizes to sperm flagella and participates in the organization of axonemal microtubules and associated structures[1][2][4][6]. Mutations or reduced expression of CFAP44 disrupt axonemal structure, leading to defective sperm motility and morphology, and are a genetic cause of male infertility characterized by multiple morphological abnormalities of the flagella (MMAF) and asthenozoospermia[1][2]. CFAP44 does not appear to be a conventional therapeutic target such as a receptor, enzyme, or transporter, but instead is a critical scaffolding and structural protein within the flagellar axoneme. There are currently no known drug interactions or therapies aimed at modulating CFAP44 directly.
- Other names
- WDR52WD repeat-containing protein 52FLJ11142SPGF20WD repeat domain 52CFAP44cilia- and flagella-associated protein 44
02
Biological functions
Sperm axoneme assemblyMicrotubule cytoskeleton organizationSperm flagellum axoneme organization and functionRegulation of ciliary and flagellar motilityMale fertility maintenance
03
Disease associations
Infertility (specifically, male infertility and asthenozoospermia due to flagellar defects)Sperm morphological abnormalities
04
Biomarkers
Reduced CFAP44 gene expression is a biomarker for poor sperm morphology and motility (asthenozoospermia, terato-asthenozoospermia)Loss-of-function mutations in CFAP44 are associated with male infertility
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