| DNAAF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | DNAAF2, C14orf104, CILD10, KTU, PF13, dynein (axonemal) assembly factor 2, dynein axonemal assembly factor 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 612517 MGI: 1923566 HomoloGene: 10026 GeneCards: DNAAF2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Kintoun, is a protein that is encoded by the DNAAF2 gene.[5][6]
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.[5]
Clinical significance
Mutations in DNAAF2 are associated with primary ciliary dyskinesia.[7]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000165506 - Ensembl, May 2017
- 1 2 3 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.
- 1 2 "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
External links
- GeneReviews/NCBI/NIH/UW entry on Primary Ciliary Dyskinesia
- Human DNAAF2 genome location and DNAAF2 gene details page in the UCSC Genome Browser.
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