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Cilia and flagella associated protein 92 (CFAP92)
- Target
- CFAP92
- Molecular classification
- Other (cilia/flagellar associated protein)
01
Overview
Cilia and flagella associated protein 92 (CFAP92) is a protein encoded by the human CFAP92 gene, also known as KIAA1257, that is involved in the structure and stability of cilia and flagella in eukaryotic cells[5][7]. It localizes to the inner junction of the axoneme, which is a key substructure within cilia and flagella composed of microtubule doublets. While not a traditional therapeutic target (such as a receptor or enzyme), CFAP92's function is essential for the maintenance and proper function of both motile and non-motile cilia, impacting sensory signaling, development, and structural integrity in various tissues. Mutations in CFAP92 have been implicated in rare ciliopathies, including forms of inherited retinal dystrophy[5][7]. There are no known drugs or targeted therapies for CFAP92, and data on clinical biomarkers or safety concerns specific to its modulation are lacking.
- Other names
- CFAP92KIAA1257FAP92FLJ43738Uncharacterized protein CFAP92Putative cilia and flagella associated protein 92
02
Biological functions
Axoneme/inner junction structure in cilia and flagellaMaintenance of ciliary and flagellar stabilityCilia-mediated developmental and sensory processes (notably in non-motile and motile cilia)
03
Disease associations
Potential causal role in inherited retinal dystrophy and other ciliopathies
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