C14orf104

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DNAAF2
Identifiers
Aliases DNAAF2, C14orf104, CILD10, KTU, PF13, dynein (axonemal) assembly factor 2
External IDs MGI: 1923566 HomoloGene: 10026 GeneCards: DNAAF2
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_018139
NM_001083908

NM_027269

RefSeq (protein)

NP_001077377
NP_060609

NP_081545.3
NP_081545

Location (UCSC) Chr 14: 49.63 – 49.64 Mb Chr 12: 69.19 – 69.2 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Chromosome 14 open reading frame 104, also known as kintoun, is a protein that in humans is encode by the KTU gene.[3][4] The now official name is DNAAF2

Function[edit]

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.[3]

Clinical significance[edit]

Mutations in the C14orf104 are associated with primary ciliary dyskinesia.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b "Entrez Gene: chromosome 14 open reading frame 104". 
  4. ^ 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 3279746Freely accessible. PMID 19052621. 
  5. ^ Online Mendelian Inheritance in Man (OMIM) 612517

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.