DCAF17 DDB1 and CUL4 associated factor 17
Gene ID: 80067, updated on 3-Apr-2024Gene type: protein coding
Also known as: C2orf37; C20orf37
- See all available tests in GTR for this gene
- Go to complete Gene record for DCAF17
- Go to Variation Viewer for DCAF17 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Woodhouse-Sakati syndrome MedGen: C0342286OMIM: 241080GeneReviews: Neurodegeneration with Brain Iron Accumulation Disorders Overview, Woodhouse-Sakati Syndrome | See labs |
Genomic context
- Location:
- 2q31.1
- Sequence:
- Chromosome: 2; NC_000002.12 (171434226..171485052)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DCAF17 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- DCAF17 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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