Aliases:This biomarker is also known as:
- DNA excision repair protein ERCC-5,
- excision repair cross-complementing rodent repair deficiency, complementation group 5,
- Xeroderma pigmentosum group G-complementing protein,
- DNA repair protein complementing XP-G cells,
- EC 3.1.-.-,
- XPG-complementing protein,
- xeroderma pigmentosum, complementation group G,
The ERCC5 gene encodes a single-stranded structure-specific DNA endonuclease involved in DNA excision repair following UV-induced damage. ERCC5 makes the 3'incision in DNA nucleotide excision repair (NER) and acts as a cofactor for a DNA glycosylase that removes oxidized pyrimidines from DNA. The ERCC5 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. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene.
|QA State:||Under Review|
There are no datasets associated with this biomarker.