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Beschreibung

DNA excision repair protein ERCC-6 (UniProt: Q03468, also known as ATP-dependent helicase ERCC6, Cockayne syndrome protein CSB) is encoded by the ERCC6 (also known as CSB) gene (Gene ID: 2074) in human. CSB is a homodimeric nuclear protein that belongs to the SwItch/ Sucrose nonfermentable family of DNA-dependent ATPases and contains seven characteristic helicase motifs. It is a part of a complex that contains RNA pol I, TFIIH, and XPG, all of which are active in transcription and/or DNA repair. Hence, it is an 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 shown to be essential 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. Mutations in CSB (ERCC6) gene are known to cause age related macular degeneration and Cockayne syndrome B that is characterized by delayed neural development and severe progressive neurologic degeneration and mental retardation.