Aliases for ERCC6 Gene
External Ids for ERCC6 Gene
Previous HGNC Symbols for ERCC6 Gene
Previous GeneCards Identifiers for ERCC6 Gene
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. Naturally-occurring readthrough transcription occurs between this gene and the adjacent PGBD3 gene (GeneID:267004), and results in a fusion protein that shares sequence with the product of each individual gene. The readthrough locus is represented by GeneID:101243544. [provided by RefSeq, Mar 2013]
GeneCards Summary for ERCC6 Gene
ERCC6 (Excision Repair Cross-Complementation Group 6) is a Protein Coding gene. Diseases associated with ERCC6 include cerebrooculofacioskeletal syndrome 1 and de sanctis-cacchione syndrome. Among its related pathways are Chks in Checkpoint Regulation and Gene Expression. GO annotations related to this gene include chromatin binding and protein complex binding. An important paralog of this gene is ERCC6L2.
UniProtKB/Swiss-Prot for ERCC6 Gene
Essential factor involved in transcription-coupled nucleotide excision repair which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Upon DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the interface between stalled RNA polymerase II and DNA. It is required for transcription-coupled repair complex formation. It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the at sites of RNA polymerase II-blocking lesions.