DNAL1 Chromosome 14
Dynein axonemal light chain 1
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What This Gene Does
This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]
Gene Info
Gene Group
Dyneins, axonemal outer arm complex subunits
Locus Type
gene with protein product
Location
14q24.3
Ensembl
ENSG00000119661
Associated Conditions (4)
Primary ciliary dyskinesia 16
Inborn genetic diseases
Kartagener syndrome
Primary ciliary dyskinesia
Key Variants
RS141873943
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 16, Primary ciliary dyskinesia 16
Health Risk
RS185924269
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 16, Primary ciliary dyskinesia 16
Health Risk
RS35284335
Conflicting classifications of pathogenicity
Inborn genetic diseases, Primary ciliary dyskinesia 16, Inborn genetic diseases
Health Risk
RS748496499
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 16, Primary ciliary dyskinesia 16
Health Risk
RS1060501178
Pathogenic
Primary ciliary dyskinesia 16, Primary ciliary dyskinesia 16
Health Risk
RS1252878067
Pathogenic
Primary ciliary dyskinesia 16, Primary ciliary dyskinesia 16
Health Risk
RS372572996
Pathogenic
Primary ciliary dyskinesia 16, Primary ciliary dyskinesia 16
Health Risk
RS387907021
Pathogenic
Primary ciliary dyskinesia 16, Kartagener syndrome, Primary ciliary dyskinesia 16
Health Risk
RS746219926
Pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS876657637
Pathogenic/Likely pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia 16, Primary ciliary dyskinesia
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141873943 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 16, Primary ciliary dyskinesia 16 |
| RS185924269 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 16, Primary ciliary dyskinesia 16 |
| RS35284335 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Primary ciliary dyskinesia 16, Inborn genetic diseases |
| RS748496499 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia 16, Primary ciliary dyskinesia 16 |
| RS1060501178 | Health Risk | Pathogenic | Primary ciliary dyskinesia 16, Primary ciliary dyskinesia 16 |
| RS1252878067 | Health Risk | Pathogenic | Primary ciliary dyskinesia 16, Primary ciliary dyskinesia 16 |
| RS372572996 | Health Risk | Pathogenic | Primary ciliary dyskinesia 16, Primary ciliary dyskinesia 16 |
| RS387907021 | Health Risk | Pathogenic | Primary ciliary dyskinesia 16, Kartagener syndrome, Primary ciliary dyskinesia 16 |
| RS746219926 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS876657637 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 16, Primary ciliary dyskinesia |