ERCC6
Chr 10ARADSomaticERCC excision repair 6, chromatin remodeling factor
Also known as: ARMD5, CKN2, COFS, COFS1, CSB, CSB-PGBD3, POF11, RAD26
This gene encodes a DNA-binding protein essential for transcription-coupled nucleotide excision repair and chromatin remodeling, with DNA-dependent ATPase activity that removes DNA lesions and regulates double-strand break repair. Mutations cause autosomal recessive Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1, both early-onset multisystem disorders with neurodegeneration, growth failure, and photosensitivity. The protein is critical for neuronal differentiation and has very low tolerance for loss-of-function mutations (LOEUF 0.802).
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
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
ERCC6 · 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