DNAI1 Chromosome 9
Dynein axonemal intermediate chain 1
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What This Gene Does
This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
"WD repeat domain containing|Dyneins, axonemal outer arm complex subunits"
Locus Type
gene with protein product
Location
9p13.3
Ensembl
ENSG00000122735
Associated Conditions (7)
Primary ciliary dyskinesia
Kartagener syndrome
DNAI1-related disorder
Familial cancer of breast
See cases
Respiratory ciliopathies including non-CF bronchiectasis
Inborn genetic diseases
Key Variants
RS116938457
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Kartagener syndrome, Primary ciliary dyskinesia
Health Risk
RS11793196
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Kartagener syndrome, Primary ciliary dyskinesia
Health Risk
RS1335386227
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, DNAI1-related disorder, Kartagener syndrome
Health Risk
RS137935543
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Kartagener syndrome, Primary ciliary dyskinesia
Health Risk
RS139953639
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Kartagener syndrome, Primary ciliary dyskinesia
Health Risk
RS141157671
Conflicting classifications of pathogenicity
Kartagener syndrome, Primary ciliary dyskinesia, Kartagener syndrome
Health Risk
RS141690214
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Kartagener syndrome, Primary ciliary dyskinesia
Health Risk
RS1451350869
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Kartagener syndrome, Primary ciliary dyskinesia
Health Risk
RS146203427
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Kartagener syndrome, Primary ciliary dyskinesia
Health Risk
RS146434058
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Kartagener syndrome, Primary ciliary dyskinesia
Health Risk
RS146501326
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS148238282
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Kartagener syndrome, Primary ciliary dyskinesia
Health Risk
All Variants (158)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2132076893 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2132081341 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2132081705 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2132086495 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2491983430 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2491983663 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2492025436 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2492032478 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2492032587 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2492033394 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2492033549 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2492033561 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2492038105 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2492044745 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2492058503 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2492058692 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Kartagener syndrome, Primary ciliary dyskinesia |
| RS2492072291 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2492072326 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2492075310 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2492094676 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2492096070 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2492096457 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2492120752 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2492126192 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2492127338 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2492136416 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS368248592 | Health Risk | Pathogenic | Primary ciliary dyskinesia, See cases, Kartagener syndrome |
| RS376252276 | Health Risk | Pathogenic | Kartagener syndrome, Primary ciliary dyskinesia, DNAI1-related disorder |
| RS397515363 | Health Risk | Pathogenic | Kartagener syndrome, Primary ciliary dyskinesia, Inborn genetic diseases |
| RS397515563 | Health Risk | Pathogenic | Kartagener syndrome, Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS606231164 | Health Risk | Pathogenic | Kartagener syndrome, Kartagener syndrome |
| RS606231165 | Health Risk | Pathogenic | Kartagener syndrome, Kartagener syndrome |
| RS748929117 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS762611736 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS769224534 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS867262419 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Kartagener syndrome, Primary ciliary dyskinesia |
| RS878854968 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1024654594 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Kartagener syndrome, Primary ciliary dyskinesia |
| RS1268770869 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia, Kartagener syndrome |
| RS1294734737 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Kartagener syndrome, Primary ciliary dyskinesia |
| RS1371519471 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Kartagener syndrome, Primary ciliary dyskinesia |
| RS1825102855 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Kartagener syndrome, Primary ciliary dyskinesia |
| RS200669099 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Kartagener syndrome, Primary ciliary dyskinesia |
| RS201120508 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, DNAI1-related disorder, Kartagener syndrome |
| RS2132057423 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Kartagener syndrome, Primary ciliary dyskinesia |
| RS2132057443 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia, Kartagener syndrome |
| RS2132072131 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Kartagener syndrome, Primary ciliary dyskinesia |
| RS2492033381 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Kartagener syndrome, Primary ciliary dyskinesia |
| RS747121305 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, DNAI1-related disorder, Kartagener syndrome |
| RS749302505 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Kartagener syndrome, Primary ciliary dyskinesia |