DNAH3 Chromosome 16
Dynein axonemal heavy chain 3
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What This Gene Does
This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
Dyneins, axonemal inner arm I1/f complex subunits
Locus Type
gene with protein product
Location
16p12.3
Ensembl
ENSG00000158486
Associated Conditions (1)
Spermatogenic failure 18
Key Variants
RS139500352
Conflicting classifications of pathogenicity
Spermatogenic failure 18, Spermatogenic failure 18
Health Risk
RS145375625
Conflicting classifications of pathogenicity
Health Risk
RS777070451
Conflicting classifications of pathogenicity
Spermatogenic failure 18, Spermatogenic failure 18
Health Risk
RS747426363
Likely pathogenic
Spermatogenic failure 18, Spermatogenic failure 18
Health Risk
RS748305297
Likely pathogenic
Spermatogenic failure 18, Spermatogenic failure 18
Health Risk
RS776237346
Likely pathogenic
Spermatogenic failure 18, Spermatogenic failure 18
Health Risk
RS768646066
Pathogenic
Spermatogenic failure 18, Spermatogenic failure 18
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139500352 | Health Risk | Conflicting classifications of pathogenicity | Spermatogenic failure 18, Spermatogenic failure 18 |
| RS145375625 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777070451 | Health Risk | Conflicting classifications of pathogenicity | Spermatogenic failure 18, Spermatogenic failure 18 |
| RS747426363 | Health Risk | Likely pathogenic | Spermatogenic failure 18, Spermatogenic failure 18 |
| RS748305297 | Health Risk | Likely pathogenic | Spermatogenic failure 18, Spermatogenic failure 18 |
| RS776237346 | Health Risk | Likely pathogenic | Spermatogenic failure 18, Spermatogenic failure 18 |
| RS768646066 | Health Risk | Pathogenic | Spermatogenic failure 18, Spermatogenic failure 18 |