C14orf104
| DNAAF2 | |||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||||||
| Aliases | DNAAF2, C14orf104, CILD10, KTU, PF13, dynein (axonemal) assembly factor 2 | ||||||||||||||||
| External IDs | MGI: 1923566 HomoloGene: 10026 GeneCards: DNAAF2 | ||||||||||||||||
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| Orthologs | |||||||||||||||||
| Species | Human | Mouse | |||||||||||||||
| Entrez | |||||||||||||||||
| Ensembl | |||||||||||||||||
| UniProt | |||||||||||||||||
| RefSeq (mRNA) | |||||||||||||||||
| RefSeq (protein) | |||||||||||||||||
| 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
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.[5]
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ "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. doi:10.1038/nature07471. PMC 3279746
. PMID 19052621. - ↑ 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.