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DNA excision repair protein ERCC-8; Cockayne syndrome WD repeat protein CSA (ERCC8, CKN1, CSA)
Function:
- role in transcription-coupled nucleotide excision repair
- interacts with the CSB protein & TFIIH
Structure: contains 5 WD repeats
Compartment: nucleus (probable)
Alternative splicing: named isoforms=2
Pathology:
- defects in ERCC8 are the cause of Cockayne syndrome type A
General
excision repair cross complement (ERCC) or excision repair cross-complementing rodent repair deficiency, complementation group
WD repeat protein family
Properties
SIZE: entity length = 396 aa
MW = 44 kD
COMPARTMENT: cell nucleus
MOTIF: WD repeat {41-72}
WD repeat {97-128}
WD repeat {184-215}
WD repeat {243-273}
WD repeat {332-362}
Database Correlations
OMIM correlations
MORBIDMAP 609412
UniProt Q13216
Pfam PF00400
Entrez Gene 1161
Kegg hsa:1161
References
- UniProt :accession Q13216
- Allelic variations of the XP genes
http://www.xpmutations.org/
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/CSAID301.html
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/ERCC8
- NIEHS-SNPs
http://egp.gs.washington.edu/data/ckn1/