TDP1
Chr 14ARtyrosyl-DNA phosphodiesterase 1
TDP1 encodes a DNA repair enzyme that removes covalent adducts from DNA by hydrolyzing 3'-phosphodiester bonds, including repair of stalled topoisomerase I-DNA complexes and radiation-induced DNA breaks. Biallelic mutations cause spinocerebellar ataxia with axonal neuropathy 1 (SCAN1), an autosomal recessive disorder affecting both the cerebellum and peripheral nerves. The gene is not highly constrained against loss-of-function variants (LOEUF 1.107), consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TDP1 · 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