DNA topoisomerase III alpha
Annotations refreshed 10 hours ago.
Diagnostic Grade (Green)
Confirmed Fanconi anaemia or Bloom syndrome
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalMitochondrial DNA maintenance disorder
BIALLELIC, autosomal or pseudoautosomalMonogenic short stature
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal+1 more panels — install the extension to see the full list inline on any page.
microcephaly, growth restriction, and increased sister chromatid exchange 2
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
cancer
hereditary disease
mitochondrial disease
autosomal recessive progressive external ophthalmoplegia
multiple sclerosis
Sensorineural hearing impairment
osteosarcoma
inborn mitochondrial metabolism disorder
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
DNA topoisomerase 3-alpha
Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3'-OH DNA strand. The free DNA strand then undergoes passage around the unbroken strand thus removing DNA supercoils. Finally, in the religation step, the DNA 3'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone. As an essential component of the RMI complex it is involved in chromosome separation and the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Has DNA decatenation activity (PubMed:30057030). It is required for mtDNA decatenation and segregation after completion of replication, in a process that does not require BLM, RMI1 and RMI2 (PubMed:29290614)
TOP3A · Q13472
Mean pLDDT
83.2/ 100
Confident
1,001 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
