DNAH9 Chromosome 17
Dynein axonemal heavy chain 9
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What This Gene Does
This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Dyneins, axonemal outer arm complex subunits
Locus Type
gene with protein product
Location
17p12
Ensembl
ENSG00000007174
Associated Conditions (12)
Ciliary dyskinesia
primary
40
Inborn genetic diseases
DNAH9-related disorder
50
Primary ciliary dyskinesia
Uterine corpus endometrial carcinoma
Congenital heart disease
Non-immune hydrops fetalis
Abnormal cardiovascular system morphology
Hydrocephalus
Key Variants
RS111574749
Conflicting classifications of pathogenicity
Ciliary dyskinesia, primary, 40
Health Risk
RS111906560
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS137877445
Conflicting classifications of pathogenicity
Ciliary dyskinesia, primary, 40
Health Risk
RS138652506
Conflicting classifications of pathogenicity
Health Risk
RS139176958
Conflicting classifications of pathogenicity
Inborn genetic diseases, DNAH9-related disorder, Inborn genetic diseases
Health Risk
RS141702885
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141958775
Conflicting classifications of pathogenicity
Ciliary dyskinesia, primary, 40
Health Risk
RS143007518
Conflicting classifications of pathogenicity
Ciliary dyskinesia, primary, 40
Health Risk
RS143162500
Conflicting classifications of pathogenicity
DNAH9-related disorder, Inborn genetic diseases, DNAH9-related disorder
Health Risk
RS144523571
Conflicting classifications of pathogenicity
DNAH9-related disorder, Inborn genetic diseases, DNAH9-related disorder
Health Risk
RS144547132
Conflicting classifications of pathogenicity
Ciliary dyskinesia, primary, 40
Health Risk
RS144734617
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (152)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS769795916 | Health Risk | Pathogenic/Likely pathogenic | Abnormal cardiovascular system morphology, Ciliary dyskinesia, primary |
| RS774227660 | Health Risk | Pathogenic/Likely pathogenic | Ciliary dyskinesia, primary, 40 |