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

More general terms

• excision repair cross complement
• WD repeat protein family

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1161
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1161
• OMIM: https://mirror.omim.org/entry/216400
• OMIM: https://mirror.omim.org/entry/609412
• UniProt: http://www.uniprot.org/uniprot/Q13216.html