Protein-coding gene in the species Homo sapiens
Kintoun , is aprotein that is encoded by theDNAAF2 gene .[ 5] [ 6]
Kintoun is a highly conserved protein involved in the preassembly ofdynein arm complexes which powercilia . These complexes are found in some cilia and are assembled in thecytoplasm prior to transport forciliogenesis .[ 5]
Clinical significance [ edit ] Mutations inDNAAF2 are associated withprimary ciliary dyskinesia .[ 7]
^a b c GRCh38: Ensembl release 89: ENSG00000165506 –Ensembl , May 2017^a b c GRCm38: Ensembl release 89: ENSMUSG00000020973 –Ensembl , May 2017^ "Human PubMed Reference:" .National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" .National Center for Biotechnology Information, U.S. National Library of Medicine .^a b "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.Bibcode :2008Natur.456..611O .doi :10.1038/nature07471 .PMC 3279746 PMID 19052621 . ^ Online Mendelian Inheritance in Man (OMIM):612517
This article incorporates text from theUnited States National Library of Medicine , which is in thepublic domain .
