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DNA topoisomerase 3-alpha is an enzyme encoded by the TOP3A gene in humans, acting to control and modify the topological state of DNA during transcription and replication. It transiently breaks and rejoins a single strand of DNA, allowing the strands to pass through each other. This activity relieves supercoiling and torsional tension and is crucial for processes such as DNA replication, transcription, and homologous recombination. TOP3A forms a complex with other proteins (such as BLM helicase), playing a vital role in regulating somatic recombination, meiotic crossover, and chromosome segregation. Mutations in TOP3A are associated with disease phenotypes including microcephaly, mitochondrial disorders, and increased genomic instability[1][2][4][7].
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