菜单 基因医生

这个基因编码一种dna拓扑异构酶，一种在转录过程中控制和改变dna拓扑异构酶状态的酶。这种核酶参与了染色体缩合、染色单体分离以及dna转录和复制过程中产生的扭转应力的缓解等过程。它催化了两股双链DNA的瞬时断裂和重新连接，这使得两股DNA能够相互穿过，从而改变DNA的拓扑结构这种酶的两种形式存在作为基因复制事件的可能产物。编码这种形式的基因β定位于3号染色体，α定位于17号染色体。编码这种酶的基因作为多种抗癌药物的靶点，并且这种基因的各种突变与耐药性的发展有关。这种酶的活性降低也可能在共济失调毛细血管扩张症中发挥作用。选择性剪接导致多个转录变体[由RefSeq提供，2016年8月]
This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, beta, is localized to chromosome 3 and the alpha form is localized to chromosome 17. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]