Aliases for ERCC5 Gene
External Ids for ERCC5 Gene
Previous Symbols for ERCC5 Gene
This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]
GeneCards Summary for ERCC5 Gene
ERCC5 (Excision Repair Cross-Complementation Group 5) is a Protein Coding gene. Diseases associated with ERCC5 include xeroderma pigmentosum, group g and ercc5-related xeroderma pigmentosum. Among its related pathways are Chks in Checkpoint Regulation and DNA Repair. GO annotations related to this gene include protein homodimerization activity and protein N-terminus binding. An important paralog of this gene is BIVM-ERCC5.
UniProtKB/Swiss-Prot for ERCC5 Gene
Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the 3incision in DNA nucleotide excision repair (NER). Acts as a cofactor for a DNA glycosylase that removes oxidized pyrimidines from DNA. May also be involved in transcription-coupled repair of this kind of damage, in transcription by RNA polymerase II, and perhaps in other processes too