DCAF17 Chromosome 2
DDB1 and CUL4 associated factor 17
Upload your DNA to see your personal genotypes for variants in DCAF17.
What This Gene Does
This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
DDB1 and CUL4 associated factors
Locus Type
gene with protein product
Location
2q31.1
Ensembl
ENSG00000115827
Associated Conditions (5)
Woodhouse-Sakati syndrome
DCAF17-related disorder
Inborn genetic diseases
Neurodegeneration with brain iron accumulation
Papillary renal cell carcinoma type 1
Key Variants
RS114519296
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
Health Risk
RS139655160
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
Health Risk
RS1414349657
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
Health Risk
RS150095386
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, DCAF17-related disorder, Woodhouse-Sakati syndrome
Health Risk
RS192861143
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
Health Risk
RS199742600
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, DCAF17-related disorder, Woodhouse-Sakati syndrome
Health Risk
RS200189652
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, DCAF17-related disorder, Woodhouse-Sakati syndrome
Health Risk
RS201346228
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, Inborn genetic diseases, Woodhouse-Sakati syndrome
Health Risk
RS201494527
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, DCAF17-related disorder, Woodhouse-Sakati syndrome
Health Risk
RS202231211
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, Inborn genetic diseases, DCAF17-related disorder
Health Risk
RS368707741
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
Health Risk
RS377182072
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
Health Risk
All Variants (65)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2529762014 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529781949 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529782157 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529794608 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529794802 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529807779 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS760978794 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS761229686 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS762608997 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS797045038 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, DCAF17-related disorder, Woodhouse-Sakati syndrome |
| RS863224865 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS1410964899 | Health Risk | Pathogenic/Likely pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529610539 | Health Risk | Pathogenic/Likely pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS778488574 | Health Risk | Pathogenic/Likely pathogenic | Woodhouse-Sakati syndrome, Neurodegeneration with brain iron accumulation, Woodhouse-Sakati syndrome |
| RS868533593 | Health Risk | Pathogenic/Likely pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |