WDR48 WD repeat domain 48
Gene ID: 57599, updated on 5-Mar-2024Gene type: protein coding
Also known as: P80; UAF1; Bun62; SPG60
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- Go to complete Gene record for WDR48
- Go to Variation Viewer for WDR48 variants
Summary
The protein encoded by this gene has been shown to interact with ubiquitin specific peptidase 1 (USP1), activating the deubiquitinating activity of USP1 and allowing it to remove the ubiquitin moiety from monoubiquitinated FANCD2. FANCD2 is ubiquitinated in response to DNA damage. [provided by RefSeq, Sep 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. GeneReviews: Not available |
Genomic context
- Location:
- 3p22.2
- Sequence:
- Chromosome: 3; NC_000003.12 (39052016..39096664)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for WDR48 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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