Identity
HGNC
LOCATION
16q24.1
LOCUSID
ALIAS
CILD13,DAU1,LRRC50,ODA7,swt
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 123872
MIM: 613190
HGNC: 30539
Ensembl: ENSG00000154099
Variants:
dbSNP: 123872
ClinVar: 123872
TCGA: ENSG00000154099
COSMIC: DNAAF1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 30939186 | 2019 | Altered Dynein Axonemal Assembly Factor 1 Expression in C-Boutons in Bulbar and Spinal Cord Motor-Neurons in Sporadic Amyotrophic Lateral Sclerosis. | 3 |
| 30939186 | 2019 | Altered Dynein Axonemal Assembly Factor 1 Expression in C-Boutons in Bulbar and Spinal Cord Motor-Neurons in Sporadic Amyotrophic Lateral Sclerosis. | 3 |
| 29228333 | 2018 | DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. | 22 |
| 29228333 | 2018 | DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. | 22 |
| 27543293 | 2016 | Mutations in the Motile Cilia Gene DNAAF1 Are Associated with Neural Tube Defects in Humans. | 15 |
| 27996046 | 2016 | Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility. | 22 |
| 27543293 | 2016 | Mutations in the Motile Cilia Gene DNAAF1 Are Associated with Neural Tube Defects in Humans. | 15 |
| 27996046 | 2016 | Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility. | 22 |
| 19944400 | 2009 | Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. | 109 |
| 19944405 | 2009 | Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. | 81 |
| 19944400 | 2009 | Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. | 109 |
| 19944405 | 2009 | Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. | 81 |
| 18385425 | 2008 | LRRC50, a conserved ciliary protein implicated in polycystic kidney disease. | 42 |
| 18385425 | 2008 | LRRC50, a conserved ciliary protein implicated in polycystic kidney disease. | 42 |
Citation
Dessen P
DNAAF1 (dynein axonemal assembly factor 1)
Atlas Genet Cytogenet Oncol Haematol. 2018-11-01
Online version: http://atlasgeneticsoncology.org/gene/57721/dnaaf1-(dynein-axonemal-assembly-factor-1)
