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 cockayne syndrome type ii and ercc6-related cockayne syndrome. Among its related pathways are Chks in Checkpoint Regulation and Gene Expression. GO annotations related to this gene include chromatin binding and protein C-terminus 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.