TOP1MT
Chr 8DNA topoisomerase I mitochondrial
The encoded mitochondrial DNA topoisomerase relieves supercoiling tension during mitochondrial DNA replication and transcription by transiently cleaving and rejoining DNA strands. Mutations cause infantile-onset spinocerebellar ataxia with mitochondrial encephalomyopathy, inherited in an autosomal recessive pattern. The gene shows moderate constraint against loss-of-function variants (LOEUF 1.68), with affected patients presenting with progressive neurodegeneration involving the cerebellum and skeletal muscle.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TOP1MT · 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