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Cilia- and flagella-associated protein 69 (CFAP69) is an evolutionarily conserved, cytoplasmic protein integral to the assembly and stability of motile cilia and flagella. In humans and mice, CFAP69 is highly expressed in the testis and is especially localized to the midpiece of the sperm flagellum. Loss-of-function mutations in CFAP69 disrupt the normal structure of flagella, causing morphological abnormalities (e.g., short, coiled, or absent flagella) and resulting in primary male infertility known as MMAF. Beyond the reproductive system, CFAP69 is enriched in the cilia of olfactory sensory neurons, where it regulates the speed and robustness of odor response transduction by modulating signal kinetics. The protein contains armadillo-type alpha-helical repeats, which likely mediate critical protein-protein interactions within ciliary and flagellar complexes. Despite its essential role in cilia and flagella biology, CFAP69 is not considered a receptor, enzyme, or transporter, and its dysfunction leads primarily to reproductive and (potentially) olfactory disorders
Not applicable. No drugs are known to act on CFAP69
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