DNAH6 Chromosome 2
Dynein axonemal heavy chain 6
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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. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016]
Gene Info
Gene Group
Dyneins, axonemal inner arm I1/f complex subunits
Locus Type
gene with protein product
Location
2p11.2
Ensembl
ENSG00000115423
Associated Conditions (3)
Ciliary dyskinesia
primary
45
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2470844224 | Health Risk | Likely pathogenic | Ciliary dyskinesia, primary, 45 |