Cilia and flagella associated protein 410 (CFAP410)

Cilia and flagella associated protein 410 (CFAP410) is a leucine-rich repeat-containing protein (~255–256 amino acids) encoded by the *CFAP410* (formerly *C21orf2*) gene and found in all ciliated eukaryotes[1][2][3][5]. It exhibits a bimodular architecture with an N-terminal leucine-rich repeat domain (NTD) and a C-terminal helical bundle domain (CTD), which assemble into a tetramer essential for proper basal body localization in cilia and flagella[1][3][5]. CFAP410 interacts with other ciliary proteins such as NEK1 and SPATA7 and plays crucial roles in ciliogenesis, DNA damage repair, and neuronal development[1][2][3]. Mutations in *CFAP410* are associated with several autosomal recessive ciliopathies, including skeletal and retinal disorders such as spondylometaphyseal dysplasia and retinitis pigmentosa[1][2][3]. These mutations generally destabilize the protein structure or disrupt its oligomerization, leading to faulty ciliary assembly and cell function[1][2][3][5]. CFAP410 is not a direct therapeutic drug target or receptor, and there are no known drugs or validated biomarkers directly interacting with this protein as of 2025[1][2][3][4][5].

Other names

C21orf2chromosome 21 open reading frame 2