Dynein axonemal assembly factor 6 (DNAAF6)

Dynein axonemal assembly factor 6 (DNAAF6) is a protein-coding gene that plays a crucial role in the cytoplasmic pre-assembly of axonemal dynein motor complexes. It enables dynein intermediate chain binding activity and is essential for the assembly of both inner and outer dynein arms required for motility in cilia and flagella, notably in flagellated sperm. Mutations in DNAAF6 are associated with X-linked primary ciliary dyskinesia, a disorder resulting from defective ciliary motility. DNAAF6 is not classified as an enzyme, receptor, transporter, or GPCR, but as a chaperone-like assembly factor within the axonemal dynein assembly protein family. It is implicated in fundamental cellular motility mechanisms, especially relating to cilia and flagella, but is not established as a direct therapeutic target, and no drugs currently target DNAAF6. Its gene is also known as CXorf41 and PIH1D3, and mutations affecting its function cause ciliary dysfunction diseases.

Other names

CXorf41PIH1D3MGC35261NYSAR97TWISTERPIH1 domain-containing protein 3Sarcoma antigen NY-SAR-97CILD36PIH1 domain containing 3