ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit
Gene ID: 1161, updated on 5-May-2024Gene type: protein coding
Also known as: CSA; CKN1; UVSS2
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- Go to complete Gene record for ERCC8
- Go to Variation Viewer for ERCC8 variants
Summary
This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cockayne syndrome type 1 | See labs |
| UV-sensitive syndrome 2 | See labs |
Genomic context
- Location:
- 5q12.1
- Sequence:
- Chromosome: 5; NC_000005.10 (60866454..60945070, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ERCC8 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- ERCC8 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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