ERCC8
Chr 5ARERCC excision repair 8, CSA ubiquitin ligase complex subunit
Also known as: CKN1, CSA, UVSS2
The ERCC8 protein serves as the substrate-recognition component of the CSA complex, an E3 ubiquitin ligase that facilitates transcription-coupled nucleotide excision repair by mediating ubiquitination of RNA polymerase II when it stalls at DNA lesions. Mutations cause Cockayne syndrome, an autosomal recessive disorder characterized by growth failure, premature aging, neurodegeneration, and extreme sensitivity to ultraviolet radiation. The gene is not loss-of-function intolerant (pLI near zero), consistent with its recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ERCC8 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools