Protein Name ERCC excision repair 8, CSA ubiquitin ligase complex subunit
Organism Homo sapiens
Gene ID 1161
Gene Symbol

ERCC8

UniProt Q13216 (ERCC8_HUMAN), A0A0S2Z3L1 (A0A0S2Z3L1_HUMAN), B4DGZ9 (B4DGZ9_HUMAN), B3KPW7 (B3KPW7_HUMAN)
Relationships Total Number of functionally related compound(s) : 582
Total Number of Articles : 1001
Description

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

Gene Summary

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]

synonyms
  • DNA excision repair protein ERCC-8
  • Cockayne syndrome WD-repeat protein CSA
  • cockayne syndrome WD repeat protein CSA
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Properties