C14orf104

Dynein, axonemal, assembly factor 2
Identifiers
Symbols DNAAF2 ; C14orf104; CILD10; KTU; PF13
External IDs OMIM: 612517 MGI: 1923566 HomoloGene: 10026 GeneCards: DNAAF2 Gene
Orthologs
Species Human Mouse
Entrez 55172 109065
Ensembl ENSG00000165506 ENSMUSG00000020973
UniProt Q9NVR5 Q8BPI1
RefSeq (mRNA) NM_001083908 NM_027269
RefSeq (protein) NP_001077377 NP_081545
Location (UCSC) Chr 14:
49.63 – 49.64 Mb		 Chr 12:
69.19 – 69.2 Mb
PubMed search

Chromosome 14 open reading frame 104, also known as kintoun, is a protein that in humans is encode by the KTU gene.[1][2] The now official name is DNAAF2

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.<ref name="entrez"/

Clinical significance

Mutations in the C14orf104 are associated with primary ciliary dyskinesia.[3]

References

  1. ↑ "Entrez Gene: chromosome 14 open reading frame 104".
  2. ↑ 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.
  3. ↑ 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.


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