Excision-Repair Cross-Complementing, Group 8

Alternative Names

  • ERCC8
  • CSA Gene
  • CKN1 Gene

Associated Diseases

Cockayne Syndrome, Type A
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OMIM Number

609412

NCBI Gene ID

1161

Uniprot ID

Q132

Length

71,248 bases

No. of Exons

13

No. of isoforms

2

Protein Name

DNA excision repair protein ERCC-8

Molecular Mass

44055 Da

Amino Acid Count

396

Genomic Location

chr5:60,873,831-60,945,078

Gene Map Locus
5q12.1

Description

The ERCC8 gene encodes a WD repeat protein with a role in substrate recognition by the CSA complex. This complex functions as an E3 ubiquitin ligase with an important role in the transcription-coupled nucleotide excision repair system. The CSA complex ubiquitinates a DNA-binding protein called ERCC6 and causes its proteosomal degradation in a UV-dependant manner. This process is required for recruiting numerous factors to a transcription-coupled repair complex leading to the recovery of RNA synthesis following transcription-coupled repair events.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000082.3:c.173+1046A>GLebanonNC_000005.10:g.60927818T>CPathogenicCockayne Syndrome, Type ANG_009289.1:g.22261A>G; NM_000082.3:c.173+1046A>G; NP_000073.1:p.?
NM_000082.3:c.275+1G>ASudanNC_000005.10:g.60922053C>TPathogenicCockayne Syndrome, Type ANG_009289.1:g.28026G>A; NM_000082.3:c.275+1G>A; NP_000073.1:p.?
NM_000082.3:c.551-1G>ASomalia; SudanNC_000005.10:g.60902509C>TPathogenicCockayne Syndrome, Type ANG_009289.1:g.47570G>A ; NM_000082.3:c.551-1G>A; NP_000073.1:p.?
NM_000082.3:c.843+1G>CLebanonchr5:60898275Likely PathogenicPathogenicCockayne Syndrome, Type ANG_009289.1:g.51804G>C; NM_000082.3:c.843+1G>C1305258765558214
NM_000082.3:c.966C>ALebanon; PalestineNC_000005.10:g.60890964G>TPathogenicPathogenicCockayne Syndrome, Type ANG_009289.1:g.59115C>A; NM_000082.3:c.966C>A; NP_000073.1:p.Tyr322Ter1214343231715

Other Reports

United Arab Emirates

Saleh et al. (2021) described a female patient with Cockayne Syndrome Type A with deletion of exons 10 and 11 of the ERCC8 gene. 

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