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Gene : ERCC8 Homo sapiens

Name  ? ERCC excision repair 8, CSA ubiquitin ligase complex subunit Cytological Location  5q12.1
Brief Description  ERCC excision repair 8, CSA ubiquitin ligase complex subunit
Description  This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
  • synonyms:
  • Cockayne syndrome 1 (classical),
  • CKN1,
  • ERCC8,
  • CKN1,
  • excision repair cross-complementing rodent repair deficiency, complementation group 8,
  • NM_000082,
  • U28413,
  • CSA,
  • OTTHUMG00000097741,
  • CSA,
  • uc003jsm.4,
  • excision repair cross-complementation group 8,
  • UVSS2,
  • HGNC:3439
  • identifiers:
  • 1161,
  • ENSG00000049167,
  • ERCC8

Genome feature

Region: gene ? Length: 78625  
Location: 5:60866454-60945078 reverse strand Cyto location: 5q12.1

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2 Diseases

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3753 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results