Aliases for ERCC8 Gene
External Ids for ERCC8 Gene
Previous HGNC Symbols for ERCC8 Gene
Previous GeneCards Identifiers for ERCC8 Gene
This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
GeneCards Summary for ERCC8 Gene
ERCC8 (ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit) is a Protein Coding gene. Diseases associated with ERCC8 include Uv-Sensitive Syndrome 2 and Cockayne Syndrome A. Among its related pathways are Ubiquitin mediated proteolysis and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity and DNA-dependent ATPase activity.
UniProtKB/Swiss-Prot for ERCC8 Gene
Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, involved in transcription-coupled nucleotide excision repair. The CSA complex (DCX(ERCC8) complex) promotes the ubiquitination and subsequent proteasomal degradation of ERCC6 in a UV-dependent manner; ERCC6 degradation is essential for the recovery of RNA synthesis after transcription-coupled repair. It is required for the recruitment of XAB2, HMGN1 and TCEA1/TFIIS to a transcription-coupled repair complex which removes RNA polymerase II-blocking lesions from the transcribed strand of active genes.