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  • 發布時間:2022-08-05 14:15 原文鏈接: 與乳腺癌相關的ERBB3基因編碼功能描述

    該基因編碼受體酪氨酸激酶的表皮生長因子受體(egfr)家族的一個成員。這種膜結合蛋白具有神經調節蛋白結合域,但不具有活性激酶域。因此,它可以結合這個配體,但不能通過蛋白磷酸化將信號傳遞到細胞中。然而,它確實與其他具有激酶活性的表皮生長因子受體家族成員形成異二聚體。異二聚化導致激活導致細胞增殖或分化的途徑。這種基因的擴增和/或其蛋白的過度表達在許多癌癥中都有報道,包括前列腺癌、膀胱癌和乳腺癌。編碼不同亞型的替代轉錄剪接變異體已經被描述。一種亞型缺乏膜間區,在細胞外分泌。這種形式調節膜結合形式的活性。此外,還報告了其他剪接變體,但尚未對其進行徹底的表征。
    This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized.

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