菜单 基因医生

这个基因编码糖皮质激素受体，它既可以作为一个转录因子，结合糖皮质激素反应基因启动子中的糖皮质激素反应元件来激活其转录，也可以作为其他转录因子的调节因子。这种受体通常存在于细胞质中，但一旦配体结合，就被转运到细胞核中它参与炎症反应、细胞增殖和靶组织分化。该基因突变与糖皮质激素抵抗有关。该基因的选择性剪接导致编码相同或不同亚型的转录变体由于使用交替的帧内翻译起始位点而产生的其他亚型也被描述，并且被证明是功能性的，显示出不同的细胞质到细胞核的转运模式和不同的转录活性（PMID:15866175）[由RefSeq提供，2011年2月]
This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This receptor is typically found in the cytoplasm, but upon ligand binding, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in target tissues. Mutations in this gene are associated with generalized glucocorticoid resistance. Alternative splicing of this gene results in transcript variants encoding either the same or different isoforms. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011]