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Gene : ERCC6 Homo sapiens

Name  ? ERCC excision repair 6, chromatin remodeling factor Cytological Location  10q11.23
Brief Description  ERCC excision repair 6, chromatin remodeling factor
Description  This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]
  • synonyms:
  • excision repair cross-complementing rodent repair deficiency, complementation group 6,
  • HGNC:3438,
  • OTTHUMG00000018195,
  • excision repair cross-complementation group 6,
  • POF11,
  • COFS,
  • CKN2,
  • UVSS1,
  • ERCC6,
  • CSB,
  • uc001jhs.6,
  • NM_000124,
  • CSB-PGBD3,
  • Cockayne syndrome B protein,
  • RAD26,
  • ARMD5,
  • RAD26,
  • CKN2,
  • COFS1,
  • ARMD5,
  • L04791,
  • CSB
  • identifiers:
  • 2074,
  • ENSG00000225830,
  • ERCC6

Genome feature

Region: gene ? Length: 85069  
Location: 10:49454470-49539538 reverse strand Cyto location: 10q11.23


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7 Diseases

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