ERCC4 ERCC excision repair 4, endonuclease catalytic subunit
Gene ID: 2072, updated on 27-Nov-2024Gene type: protein coding
Also known as: XPF; RAD1; FANCQ; XFEPS; ERCC11
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- Go to complete Gene record for ERCC4
- Go to Variation Viewer for ERCC4 variants
Summary
The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of the metabolic syndrome in Indian Asian men. GeneReviews: Not available | |
| Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
| Fanconi anemia complementation group Q | See labs |
| Genome-wide association study of conduct disorder symptomatology. GeneReviews: Not available | |
| UGT1A1 is a major locus influencing bilirubin levels in African Americans. GeneReviews: Not available | |
| Xeroderma pigmentosum, group F | See labs |
| XFE progeroid syndrome | See labs |
Genomic context
- Location:
- 16p13.12
- Sequence:
- Chromosome: 16; NC_000016.10 (13920154..13952348)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ERCC4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- ERCC4 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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