DNAAF2 explained
Kintoun, is a protein that is encoded by the DNAAF2 gene.[1] [2]
Function
Kintoun is a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for ciliogenesis.[1]
Clinical significance
Mutations in DNAAF2 are associated with primary ciliary dyskinesia.
External links
Notes and References
- Web site: Entrez Gene: chromosome 14 open reading frame 104.
- Omran H, Kobayashi D, Olbrich H, Tsukahara T, Loges NT, Hagiwara H, Zhang Q, Leblond G, O'Toole E, Hara C, Mizuno H, Kawano H, Fliegauf M, Yagi T, Koshida S, Miyawaki A, Zentgraf H, Seithe H, Reinhardt R, Watanabe Y, Kamiya R, Mitchell DR, Takeda H . Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins . Nature . 456 . 7222 . 611–6 . December 2008 . 19052621 . 10.1038/nature07471 . 3279746. 2008Natur.456..611O .
