TOP3A Chromosome 17
DNA topoisomerase III alpha
Upload your DNA to see your personal genotypes for variants in TOP3A.
What This Gene Does
This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
Gene Info
Gene Group
"Zinc fingers GRF-type|Topoisomerases"
Locus Type
gene with protein product
Location
17p11.2
Ensembl
ENSG00000177302
Associated Conditions (8)
TOP3A-related disorder
Inborn genetic diseases
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal recessive 5
Microcephaly
growth restriction
and increased sister chromatid exchange 2
Mitochondrial disease
Key Variants
RS117856165
Conflicting classifications of pathogenicity
TOP3A-related disorder, TOP3A-related disorder
Health Risk
RS138626975
Conflicting classifications of pathogenicity
TOP3A-related disorder, TOP3A-related disorder
Health Risk
RS139682740
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144577827
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149596894
Conflicting classifications of pathogenicity
Inborn genetic diseases, TOP3A-related disorder, Inborn genetic diseases
Health Risk
RS185423024
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201942380
Conflicting classifications of pathogenicity
Health Risk
RS372121045
Conflicting classifications of pathogenicity
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, Inborn genetic diseases
Health Risk
RS543070592
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS559137278
Conflicting classifications of pathogenicity
Inborn genetic diseases, TOP3A-related disorder, Inborn genetic diseases
Health Risk
RS745879100
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS762571378
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117856165 | Health Risk | Conflicting classifications of pathogenicity | TOP3A-related disorder, TOP3A-related disorder |
| RS138626975 | Health Risk | Conflicting classifications of pathogenicity | TOP3A-related disorder, TOP3A-related disorder |
| RS139682740 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS144577827 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149596894 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, TOP3A-related disorder, Inborn genetic diseases |
| RS185423024 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201942380 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372121045 | Health Risk | Conflicting classifications of pathogenicity | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, Inborn genetic diseases |
| RS543070592 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS559137278 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, TOP3A-related disorder, Inborn genetic diseases |
| RS745879100 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762571378 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765699208 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS9911283 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly, growth restriction, and increased sister chromatid exchange 2 |
| RS1288928564 | Health Risk | Likely pathogenic | Microcephaly, growth restriction, and increased sister chromatid exchange 2 |
| RS1296511709 | Health Risk | Likely pathogenic | — |
| RS1597981046 | Health Risk | Likely pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RS1980561227 | Health Risk | Likely pathogenic | — |
| RS2545622367 | Health Risk | Likely pathogenic | — |
| RS2545625859 | Health Risk | Likely pathogenic | — |
| RS751071439 | Health Risk | Likely pathogenic | — |
| RS764959343 | Health Risk | Likely pathogenic | — |
| RS773789551 | Health Risk | Likely pathogenic | — |
| RS1181170417 | Health Risk | Pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RS1432573544 | Health Risk | Pathogenic | — |
| RS1555568139 | Health Risk | Pathogenic | Microcephaly, growth restriction, and increased sister chromatid exchange 2 |
| RS200944917 | Health Risk | Pathogenic | Mitochondrial disease, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 |
| RS2545594181 | Health Risk | Pathogenic | — |
| RS2545606715 | Health Risk | Pathogenic | — |
| RS2545609940 | Health Risk | Pathogenic | — |
| RS2545618993 | Health Risk | Pathogenic | — |
| RS376902371 | Health Risk | Pathogenic | Mitochondrial disease, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 |
| RS752838075 | Health Risk | Pathogenic | Microcephaly, growth restriction, and increased sister chromatid exchange 2 |
| RS767999305 | Health Risk | Pathogenic | — |
| RS200150335 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly, growth restriction, and increased sister chromatid exchange 2 |
| RS763986208 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |