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Gene : ERCC5 Homo sapiens

Name  ? ERCC excision repair 5, endonuclease Cytological Location  13q33.1
Brief Description  ERCC excision repair 5, endonuclease
Description  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:
  • XPGC,
  • excision repair cross-complementation group 5,
  • XPG,
  • ERCM2,
  • UVDR,
  • COFS3,
  • HGNC:3437,
  • excision repair cross-complementing rodent repair deficiency, complementation group 5,
  • OTTHUMG00000017310,
  • XPGC,
  • ERCM2,
  • NM_000123,
  • ERCC5-201,
  • uc001vpw.4,
  • X71342,
  • xeroderma pigmentosum, complementation group G,
  • Cockayne syndrome,
  • ERCC5
  • identifiers:
  • 2073,
  • ENSG00000134899,
  • ERCC5

Genome feature

Region: gene ? Length: 29964  
Location: 13:102846032-102875995 Cyto location: 13q33.1


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2 Diseases

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0 SN Ps

5 Cross References

12 Data Sets

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