ERCC3
Chr 2ARERCC excision repair 3, TFIIH core complex helicase subunit
Also known as: BTF2, GTF2H, RAD25, Ssl2, TFIIH, TTD2, XPB
This gene encodes an ATP-dependent DNA helicase that is essential for both nucleotide excision repair and RNA polymerase II transcription as a core component of the TFIIH complex. Mutations cause autosomal recessive disorders including xeroderma pigmentosum group B and photosensitive trichothiodystrophy, both characterized by extreme photosensitivity, developmental abnormalities, and increased cancer risk. The gene is highly intolerant to loss-of-function variants (pLI near 0, LOEUF 0.79), reflecting its essential cellular functions.
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
ERCC3 · 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
External Resources
Links to major genomics databases and tools