Jump to content

DNAAF2

From Wikipedia, the free encyclopedia
(Redirected from C14orf104)
DNAAF2
Identifiers
AliasesDNAAF2, C14orf104, CILD10, KTU, PF13, dynein (axonemal) assembly factor 2, dynein axonemal assembly factor 2
External IDsOMIM: 612517; MGI: 1923566; HomoloGene: 10026; GeneCards: DNAAF2; OMA:DNAAF2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_018139
NM_001083908
NM_001378453

NM_027269

RefSeq (protein)

NP_001077377
NP_060609
NP_001365382

NP_081545

Location (UCSC)Chr 14: 49.63 – 49.64 MbChr 12: 69.24 – 69.25 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Kintoun, is a protein that is encoded by the DNAAF2 gene.[5][6]

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.[5]

Clinical significance

[edit]

Mutations in DNAAF2 are associated with primary ciliary dyskinesia.[7]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000165506Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020973Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: chromosome 14 open reading frame 104".
  6. ^ 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.
  7. ^ Online Mendelian Inheritance in Man (OMIM): 612517
[edit]

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