| Gene Symbol | DCAF17 |
| Full Name | DDB1 and CUL4 Associated Factor 17 |
| Chromosome | 2q31.1 |
| Protein Type | Receptor |
| Function | encodes a substrate receptor component of the CUL4-DDB1 ubiquitin ligase complex. |
| Primary Expression | endocrine tissues and the brain, where pathogenic variants cause Woodhouse-Sakati syndrome (WSS), a rare autosomal recessive disorder characterized by |
| Subcellular Localization | DCAF17 localizes primarily to the: |
| Amino Acids | 459 aa |
| Exons | 10 |
| Ensembl ID | ENSG00000056678 |
| GeneCards | DCAF17 |
| Human Protein Atlas | DCAF17 |
| DWD box | The "DDB1-WD40" motif is required for interaction with DDB1 |
| H-box | A conserved histidine-containing motif involved in substrate recognition |
| C-terminal domain | Mediates dimerization and complex assembly |
| Associated Diseases | ALS, Dystonia, Ms, Neurodegeneration, Parkinson |
| Interactions | Alpha-Synuclein, AND, ATP13A2, CP, DAPK1, DCTN5 |
| KG Connections | 60 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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