ERCC6
Sign in to saveAlso known as ARMD5, CKN2, COFS, COFS1, CSB, RAD26, UVSS1, POF11
DNA excision repair protein ERCC-6 (also CS-B protein) is a protein that in humans is encoded by the ERCC6 gene. The ERCC6 gene is located on the long arm of chromosome 10 at position 11.23.
Gene data
ERCC6- Name
- ERCC excision repair 6, chromatin remodeling factor
- Type
- protein-coding
- Aliases
- ARMD5, CKN2, COFS, COFS1, CSB, CSB-PGBD3, POF11, RAD26, UVSS1
This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016].
via MyGene.info
Wikidata facts
- Image
- ERCC6 protein.png
Show 2 more facts
- exact match
- identifiers.org/ncbigene/2074
- HomoloGene ID
- 133552
via Wikidata · CC0
~8 min read
Article
10 sectionsContents
- Function
- Structure and mechanism
- Interactions
- Neurogenesis and neural differentiation
- Cockayne syndrome
- DNA repair
- Implications in cancer
- References
- Further reading
- External links
DNA excision repair protein ERCC-6 (also CS-B protein) is a protein that in humans is encoded by the ERCC6 gene. The ERCC6 gene is located on the long arm of chromosome 10 at position 11.23.
Having 1 or more copies of a mutated ERCC6 causes Cockayne syndrome, type II.