DNAAF2


Description

The DNAAF2 (dynein axonemal assembly factor 2) is a protein-coding gene located on chromosome 14.

Kintoun is a highly conserved protein encoded by the DNAAF2 gene. It plays a critical role in the preassembly of dynein arm complexes, which are essential for the movement of cilia. These complexes are assembled in the cytoplasm before being transported to cilia during the process of ciliogenesis. Mutations in the DNAAF2 gene are associated with primary ciliary dyskinesia, a condition characterized by impaired ciliary function.

DNAAF2 is crucial for the cytoplasmic pre-assembly of axonemal dyneins, which are essential for the motility of cilia and flagella. It plays a vital role in forming dynein arm complexes within the cytoplasm before intraflagellar transport delivers them to the ciliary compartment.

DNAAF2 is also known as C14orf104, CILD10, KTU, PF13.

Associated Diseases


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