菜单 基因医生

这个基因编码的蛋白质与甲状腺激素受体相互作用，包含一个jumonji结构域。它是一种候选的组蛋白去甲基酶，被认为是关键转录因子的协同激活因子。它通过去甲基化dna损伤检测点1（mdc1）蛋白的介体在dna损伤反应途径中发挥作用，是急性髓系白血病生存所必需的。该基因突变与rett综合征和智力障碍有关。选择性剪接导致多个转录变体[由RefSeq提供，2015年12月]
The protein encoded by this gene interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate histone demethylase and is thought to be a coactivator for key transcription factors. It plays a role in the DNA-damage response pathway by demethylating the mediator of DNA damage checkpoint 1 (MDC1) protein, and is required for the survival of acute myeloid leukemia. Mutations in this gene are associated with Rett syndrome and intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]