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Symbol: ERCC8 Name: excision repair cross-complementing rodent repair deficiency, complementation group 8 Alias: CKN1; CSA Entrez gene ID: 1161 Ensembl gene ID: ENSG00000049167 Species: Human (Taxid: 9606) Functional description: 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. [UniProt] Observation: Individuals with a mutation in ERCC8 (alias CKN1) have a shortened lifespan, short stature, precociously senile appearance, retinal degeneration, optic atrophy, sensitivity to sunlight, and mental retardation [14156156]. Hypertension and renal disease are also common in ERCC8 mutants [514720]. Interventions: Assays: Organismal Lifespan Classification: Aging Relevance Analysis/Source:  GenAge GenDRHomologs Inparanoids Edit \ Update (Admin) | Delete |
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