DAW1 Chromosome 2
Dynein assembly factor with WD repeats 1
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What This Gene Does
Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in protein polyubiquitination. Predicted to act upstream of with a positive effect on outer dynein arm assembly. Predicted to act upstream of or within with a positive effect on intraciliary transport. Predicted to act upstream of or within several processes, including cerebrospinal fluid circulation; determination of left/right symmetry; and heart development. Predicted to be located in ciliary basal body. Predicted to be part of SCF ubiquitin ligase complex. Implicated in primary ciliary dyskinesia. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"WD repeat domain containing|Axonemal dynein assembly factors"
Locus Type
gene with protein product
Location
2q36.3
Ensembl
ENSG00000123977
Associated Conditions (4)
Primary ciliary dyskinesia
Ciliary dyskinesia
primary
52
Key Variants
RS1265774517
Pathogenic
Primary ciliary dyskinesia, Ciliary dyskinesia, primary
Health Risk
RS1435687311
Pathogenic
Primary ciliary dyskinesia, Ciliary dyskinesia, primary
Health Risk
RS2106197058
Pathogenic
Primary ciliary dyskinesia, Ciliary dyskinesia, primary
Health Risk
RS541693633
Pathogenic
Primary ciliary dyskinesia, Ciliary dyskinesia, primary
Health Risk
RS747333172
Pathogenic
Primary ciliary dyskinesia, Ciliary dyskinesia, primary
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1265774517 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Ciliary dyskinesia, primary |
| RS1435687311 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Ciliary dyskinesia, primary |
| RS2106197058 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Ciliary dyskinesia, primary |
| RS541693633 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Ciliary dyskinesia, primary |
| RS747333172 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Ciliary dyskinesia, primary |