XPA
Chr 9ARXPA, DNA damage recognition and repair factor
Also known as: XP1, XPAC
This gene encodes a zinc finger protein that initiates DNA nucleotide excision repair by binding to damaged sites and serving as a scaffold to assemble the repair complex, particularly for UV-induced DNA damage. Mutations cause xeroderma pigmentosum group A, an autosomal recessive disorder characterized by extreme UV hypersensitivity and markedly increased skin cancer risk. The gene is highly constrained against loss-of-function variants (pLI near 0, LOEUF 0.97), reflecting its essential role in DNA repair.
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
XPA · 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