DNAAF6 Chromosome X
Dynein axonemal assembly factor 6
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What This Gene Does
Enables dynein intermediate chain binding activity. Involved in flagellated sperm motility; inner dynein arm assembly; and outer dynein arm assembly. Located in trans-Golgi network. Implicated in primary ciliary dyskinesia 36. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Axonemal dynein assembly factors
Locus Type
gene with protein product
Location
Xq22.3
Ensembl
ENSG00000080572
Associated Conditions (9)
Ciliary dyskinesia
primary
36
X-linked
Inborn genetic diseases
Primary ciliary dyskinesia
Thyroid cancer
nonmedullary
1
Key Variants
RS147979953
Conflicting classifications of pathogenicity
Ciliary dyskinesia, primary, 36
Health Risk
RS765827471
Conflicting classifications of pathogenicity
Ciliary dyskinesia, primary, 36
Health Risk
RS2147829163
Likely pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS2522808756
Likely pathogenic
Ciliary dyskinesia, primary, 36
Health Risk
RS1057519568
Pathogenic
Ciliary dyskinesia, primary, 36
Health Risk
RS1057519569
Pathogenic
Ciliary dyskinesia, primary, 36
Health Risk
RS1928059485
Pathogenic
Ciliary dyskinesia, primary, 36
Health Risk
RS2522795828
Pathogenic
Thyroid cancer, nonmedullary, 1
Health Risk
RS2522791777
Pathogenic/Likely pathogenic
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147979953 | Health Risk | Conflicting classifications of pathogenicity | Ciliary dyskinesia, primary, 36 |
| RS765827471 | Health Risk | Conflicting classifications of pathogenicity | Ciliary dyskinesia, primary, 36 |
| RS2147829163 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2522808756 | Health Risk | Likely pathogenic | Ciliary dyskinesia, primary, 36 |
| RS1057519568 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 36 |
| RS1057519569 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 36 |
| RS1928059485 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 36 |
| RS2522795828 | Health Risk | Pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS2522791777 | Health Risk | Pathogenic/Likely pathogenic | — |