ERCC4
Chr 16ARERCC excision repair 4, endonuclease catalytic subunit
Also known as: ERCC11, FANCQ, RAD1, XFEPS, XPF
The protein functions as a catalytic component of a structure-specific DNA repair endonuclease that makes 5-prime incisions essential for nucleotide excision repair and interstrand cross-link repair. Mutations cause autosomal recessive conditions including xeroderma pigmentosum group F, Fanconi anemia complementation group Q, Cockayne syndrome overlap disorders, and XFE progeroid syndrome, affecting DNA repair mechanisms that protect against UV damage and other genotoxic stresses. The gene shows very low constraint against loss-of-function variants, which is consistent with recessive inheritance where heterozygous carriers are typically unaffected.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
ERCC4 · 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