Cilia and flagella associated protein 300 (CFAP300)

Cilia and flagella associated protein 300 (CFAP300) is a cytoplasmic protein critical for the proper assembly of outer and inner dynein arms in motile cilia and flagella, thus enabling normal axonemal structure and movement. Mutations in CFAP300 cause defects in ciliary and flagellar function, resulting in primary ciliary dyskinesia (PCD), a genetically heterogeneous disorder characterized by impaired mucociliary clearance, chronic respiratory tract disease, and male infertility due to sperm flagellar defects. The protein is not currently considered a direct therapeutic target; rather, it is most relevant as a diagnostic marker and in genetic counseling for ciliary disorders[1][2][3][5][6][7].

Other names

C11orf70MGC13040FBB5DNAAF17dynein axonemal assembly factor 17CILD38uncharacterized protein C11orf70