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  • 發布時間:2022-07-13 17:31 原文鏈接: JakSTAT信號通路相關基因功能介紹CBL基因

    這個基因是一個原癌基因,編碼一個無名指E3泛素連接酶。編碼蛋白是蛋白酶體降解底物所需的酶之一。該蛋白介導泛素從泛素結合酶(E2)轉移到特定底物。該蛋白還包含一個N端磷酸酪氨酸結合域,使其與許多酪氨酸磷酸化底物相互作用,并以蛋白酶體降解為靶點。因此,它作為許多信號轉導途徑的負調節器發揮作用。該基因在包括急性髓系白血病在內的許多癌癥中被發現突變或易位。這種基因的突變也是努南綜合征樣疾病的原因。
    This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia. Mutations in this gene are also the cause of Noonan syndrome-like disorder.

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