Cilia- and flagella-associated protein 418 (CFAP418)

CFAP418 (Cilia- and flagella-associated protein 418) is a membrane lipid-binding protein highly expressed in the brain, heart, and retina. It binds specifically to phosphatidic acid (PA) and cardiolipin (CL), lipids involved in membrane biogenesis, mitochondrial integrity, and vesicular trafficking. Disruption of CFAP418 alters membrane lipid composition, disturbs organelle function, and impairs photoreceptor disk morphogenesis. Mutations in the CFAP418 gene lead to inherited retinal degenerations such as retinitis pigmentosa and cone-rod dystrophy, and syndromic ciliopathies like Bardet-Biedl syndrome 21. CFAP418 does not fit classical drug target classes (e.g., receptor or enzyme) and there are currently no known drugs acting directly on this protein. Its primary role is maintaining membrane lipid homeostasis crucial for the function and structural integrity of photoreceptors and other ciliated cells

Other names

C8orf37smalltalkFLJ30600CORD16RP64BBS21FAP418MOT25SMALLTALKcone-rod dystrophy 16Bardet-Biedl syndrome 21protein C8orf37