TOP3B
Description
The TOP3B (DNA topoisomerase III beta) is a protein-coding gene located on chromosome 22.
TOP3B, also known as DNA topoisomerase 3-beta-1, is an enzyme encoded by the human TOP3B gene. It plays a crucial role in regulating and modifying the topological state of DNA during transcription. TOP3B catalyzes the temporary breaking and rejoining of a single DNA strand, allowing the strands to pass through each other. This action relaxes supercoils and alters the topology of DNA. TOP3B interacts with DNA helicase SGS1 and contributes to DNA recombination, cellular aging, and the maintenance of genome stability. Alternative splicing at the C-terminus of the TOP3B gene produces three transcript variants with distinct tissue specificity; however, not all variants have been fully characterized.
TOP3B is also known as TOP3B1.
Associated Diseases
- cancer
- schizophrenia
- autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
- granulomatous disease, chronic, autosomal recessive, 5
- immunodeficiency 104
- immunodeficiency 51
- autoinflammatory syndrome with immunodeficiency
- combined immunodeficiency due to ZAP70 deficiency
- immunodeficiency 75
- cystic fibrosis
- familial Mediterranean fever
