Excision Repair Cross-Complementing, Group 6

Alternative Names

  • ERCC6
  • RAD26, S. Cerevisiae, Homolog of
  • CSB Gene

Associated Diseases

Cockayne Syndrome B
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OMIM Number

609413

NCBI Gene ID

2074

Uniprot ID

Q03468

Length

85,069 bases

No. of Exons

23

No. of isoforms

2

Protein Name

DNA Excision Repair Protein ERCC-6

Molecular Mass

168416 Da

Amino Acid Count

1493

Genomic Location

chr10:49,454,470-49,539,538

Gene Map Locus
10q11.23

Description

The ERCC6 gene encodes a protein responsible for repairing DNA damaged by oxidative stress, gamma radiation, UV rays and X-rays. The protein is involved in transcription-coupled nucleotide excision repair, wherein it is required for the recruitment of numerous repair proteins to form the transcription-coupled repair complex. Mutations in the ERCC6 gene have been associated with a severe subset of Cockayne syndrome. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000124.4:c.2008C>TLebanonchr10:49482848PathogenicPathogenicCockayne Syndrome B NG_009442.1:g.61254C>T; NM_000124.4:c.2008C>T; NP_000115.1:p.Arg670Trp202080674190158
NM_000124.4:c.2800C>A Lebanonchr10:49472938Likely PathogenicUncertain SignificanceBreast CancerNG_009442.1:g.71164C>A; NM_000124.4:c.2800C>A ; NP_000115.1:p.Pro934Thr1554875536496904
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