Gene: TOP3A

Alternate names for this Gene: MGRISCE2|PEOB5|TOP3|ZGRF7

Gene Summary: 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17p11.2

Description of this Gene: DNA topoisomerase III alpha

Type of Gene: protein-coding

rs200944917 in TOP3A gene and Mitochondrial Diseases PMID 29290614 2018 Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.

rs4925166 in TOP3A gene and Multiple Sclerosis PMID 27386562 2016 Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation.

rs376902371 in TOP3A gene and PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 PMID 29290614 2018 Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.

rs4925159 in TOP3A gene and Systolic Pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.