DISEASES

Disease-gene associations mined from literature

Literature associating ERCC8 and Cockayne syndrome

ERCC8 [ENSP00000265038]

DNA excision repair protein ERCC-8; 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. Plays a role in DNA single-strand and double- strand breaks (DSSBs) repair; involved in repair of DSSBs by non- homologous end joining (NHEJ) .

Synonyms:  ERCC8,  ERCC8p,  hERCC8,  A0A2R8Y5I1,  A0A2R8YD24 ...

Linkouts:  STRING  Pharos  UniProt  OMIM