ERCC5

Name

ERCC excision repair 5, endonuclease

Type

protein-coding

Position

102,845,831–102,875,995 (+)

Aliases

COFS3, ERCC5-201, ERCM2, UVDR, XPG, XPGC

Ensembl

ENSG00000134899

RefSeq RNA

NM_000123.4

RefSeq protein

NP_000114.3

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].

via MyGene.info

Gene · Ensembl

ERCC excision repair 5, endonuclease

Symbol

ERCC5

Biotype

Protein coding

Organism

Homo sapiens

Location

13:102,845,831-102,875,995

Strand

Forward (+)

Assembly

GRCh38

Wikidata facts

Instance of

gene

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