| Gene Symbol | ERCC6 |
| Entrez Gene ID | 2074 |
| Full Name | ERCC excision repair 6, chromatin remodeling factor |
| Synonyms | ARMD5,CKN2,COFS,COFS1,CSB,CSB-PGBD3,POF11,RAD26,UVSS1 |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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]. |
| Disorder MIM: | |
| Disorder Html: | Cockayne syndrome, type B, 133540 (3); Cerebrooculofacioskeletal syndrome 1, 214150 (3); De Sanctis-Cacchione syndrome, 278800 (3); {Macular degeneration, age-related, susceptibility to, 5}, 613761 (3); UV-sensitive syndrome 1, 600630 (3); {Lung cancer, susceptibility to}, 211980 (3); Premature ovarian failure 11, 616946 (3) |
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