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: 139212
MIM: 300933
HGNC: 28570
Ensembl: ENSG00000080572
Variants:
dbSNP: 139212
ClinVar: 139212
TCGA: ENSG00000080572
COSMIC: DNAAF6
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000080572 | ENST00000336387 | Q9NQM4 |
| ENSG00000080572 | ENST00000372453 | Q9NQM4 |
| ENSG00000080572 | ENST00000535523 | Q9NQM4 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38408845 | 2024 | Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia. | 0 |
| 38408845 | 2024 | Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia. | 0 |
| 33106461 | 2021 | Novel deletion mutations of the PIH1D3 gene in an infertile young man with primary ciliary dyskinesia and his cousin with Kartagener's syndrome. | 5 |
| 34145793 | 2021 | Methylation of three genes encoded by X chromosome in blood leukocytes and colorectal cancer risk. | 3 |
| 33106461 | 2021 | Novel deletion mutations of the PIH1D3 gene in an infertile young man with primary ciliary dyskinesia and his cousin with Kartagener's syndrome. | 5 |
| 34145793 | 2021 | Methylation of three genes encoded by X chromosome in blood leukocytes and colorectal cancer risk. | 3 |
| 32170493 | 2020 | Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia. | 8 |
| 32820521 | 2020 | [Analysis of PIH1D3 variant in a Chinese pedigree affected with primary ciliary dyskinesia]. | 1 |
| 32170493 | 2020 | Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia. | 8 |
| 32820521 | 2020 | [Analysis of PIH1D3 variant in a Chinese pedigree affected with primary ciliary dyskinesia]. | 1 |
| 28041644 | 2017 | Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. | 72 |
| 28176794 | 2017 | X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. | 71 |
| 28041644 | 2017 | Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. | 72 |
| 28176794 | 2017 | X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. | 71 |
Citation
Dessen P
DNAAF6 (dynein axonemal assembly factor 6)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71915/meetings/
