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NR4A3基因编码功能及结构描述

2022.8.16

这个基因编码类固醇甲状腺激素视黄醇受体超家族的一个成员编码的蛋白质可以作为转录激活剂。该蛋白能有效结合ngfi-b反应元件(nbre)。三种不同的骨外黏液样软骨肉瘤(emcs)是该基因与其他基因相互易位的结果。易位断点与核受体亚家族4,A组,成员3(9号染色体上)和尤因肉瘤断点区域1(22号染色体上)、RNA聚合酶II、tata-box结合蛋白相关因子、68-kD(17号染色体上)或转录因子12(15号染色体上)有关。已发现该基因编码不同亚型的多个转录变体。

This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcriptional activator. The protein can efficiently bind the NGFI-B Response Element (NBRE). Three different versions of extraskeletal myxoid chondrosarcomas (EMCs) are the result of reciprocal translocations between this gene and other genes. The translocation breakpoints are associated with Nuclear Receptor Subfamily 4, Group A, Member 3 (on chromosome 9) and either Ewing Sarcome Breakpoint Region 1 (on chromosome 22), RNA Polymerase II, TATA Box-Binding Protein-Associated Factor, 68-KD (on chromosome 17), or Transcription factor 12 (on chromosome 15). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

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