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Cilia and flagella-associated protein 54 (CFAP54)
- Target
- CFAP54
- Molecular classification
- Other (axonemal/cytoskeletal protein; part of ciliary central apparatus C1d complex)
01
Overview
Cilia and flagella-associated protein 54 (CFAP54) is a central component of the C1d projection in the central microtubule apparatus of motile cilia and flagella[1][2][3][4]. CFAP54 is essential for the correct assembly and function of motile cilia and flagella in mammals. Deficiency or dysfunction of CFAP54 results in primary ciliary dyskinesia (PCD), a syndrome characterized by impaired mucociliary clearance (leading to mucus accumulation), hydrocephalus due to defective cerebrospinal fluid movement, and male infertility caused by abnormal spermatogenesis and defective sperm flagella. CFAP54 acts as a structural and regulatory protein within the C1d complex, which is needed for proper ciliary beat frequency and coordination; loss of CFAP54 causes a structural defect in the C1d projection, leading to decreased ciliary motility and disorganized flagellar assembly[1][2][3][4]. CFAP54 is not currently described as a therapeutic target, nor are there known drugs or small molecules modulating its function.
- Other names
- C12orf55C12orf63FLJ31514FLJ44112CILD54SPGF98
02
Biological functions
Ciliary motilityFlagellar motilityAxonemal assemblySpermatogenesis
03
Disease associations
Primary ciliary dyskinesia (PCD)Male infertilityHydrocephalus (as a consequence of ciliary dysfunction)Mucus accumulation/sinus disease
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