Cilia- and flagella-associated protein 206 (CFAP206)

CFAP206 is a highly conserved protein found across metazoans including humans, mice, and marine invertebrates[1][3]. It contains a DUF3508 domain thought to be involved in cilia and flagella function. CFAP206 is expressed at low levels in various tissues but has relatively higher expression in testis, brain, and respiratory tract, correlating with the presence of motile cilia and sperm flagella[3]. Functional studies show that absence or knockdown of CFAP206 results in defective motile cilia assembly, reduced ciliary beating, decreased sperm motility, and abnormal sperm tail structure, leading to infertility[1]. It is regulated by transcription factors such as Foxj1, which governs ciliogenesis[1]. The protein is cytoplasmic and incorporated into cilia, specifically implicated in radial spoke assembly and the calmodulin-spoke-associated complex, essential for proper ciliary movement and signal transduction[1][3]. There are no known therapeutic interventions targeting CFAP206, but mutations can cause significant disorders, notably primary ciliary dyskinesia and sperm motility defects.

Other names

Cilia- and flagella-associated protein 206CFAP206C6orf165Chromosome 6 open reading frame 165dJ382I10.1FLJ25974UPF0704 protein C6orf165

None known. There are no drugs or agents targeting CFAP206.