Protein Name ERCC excision repair 5, endonuclease
Organism Homo sapiens
Gene ID 2073
Gene Symbol

ERCC5

UniProt P28715 (ERCC5_HUMAN)
Relationships Total Number of functionally related compound(s) : 76
Total Number of Articles : 112
Description

ERCC excision repair 5, endonuclease

Gene Summary

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, cognitive disability, 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]

synonyms
  • DNA excision repair protein ERCC-5
  • DNA repair protein complementing XP-G cells
  • XPG-complementing protein
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Properties