NCOA2基因突變與藥物因子介紹
該基因編碼的蛋白作為核激素受體（包括類固醇、甲狀腺、類視黃醇和維生素D受體）的轉(zhuǎn)錄輔活化因子發(fā)揮作用。編碼蛋白作為這些核受體配體依賴性活性的中間因子，通過同源反應(yīng)元件的結(jié)合來調(diào)節(jié)其靶基因。該基因被發(fā)現(xiàn)與導(dǎo)致與各種癌癥的其他基因融合的易位有關(guān)，包括急性髓細胞性白血病的賴氨酸乙酰轉(zhuǎn)移酶6a（kat6a）基因、急性淋巴細胞性白血病的ets變異體6（etv6）基因以及在腫瘤中含有YRPW基序1（hey1）基因的hes相關(guān)家族bhlh轉(zhuǎn)錄因子。間充質(zhì)軟骨肉瘤。選擇性剪接導(dǎo)致多個轉(zhuǎn)錄變體。
The protein encoded by this gene functions as a transcriptional coactivator for nuclear hormone receptors, including steroid, thyroid, retinoid, and vitamin D receptors. The encoded protein acts as an intermediary factor for the ligand-dependent activity of these nuclear receptors, which regulate their target genes upon binding of cognate response elements. This gene has been found to be involved in translocations that result in fusions with other genes in various cancers, including the lysine acetyltransferase 6A (KAT6A) gene in acute myeloid leukemia, the ETS variant 6 (ETV6) gene in acute lymphoblastic leukemia, and the hes related family bHLH transcription factor with YRPW motif 1 (HEY1) gene in mesenchymal chondrosarcoma. Alternative splicing results in multiple transcript variants.
