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 .[3]
References
↑ 1.0 1.1 "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 (December 2008). "Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins" . Nature . 456 (7222): 611–6. doi :10.1038/nature07471 . PMC 3279746 PMID 19052621 . ↑ Online Mendelian Inheritance in Man (OMIM) 612517
External links This article incorporates text from the United States National Library of Medicine , which is in the public domain .
