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  • 發布時間:2022-08-08 16:47 原文鏈接: 與白血病相關的REL基因編碼功能描述

    該基因編碼一種屬于rel同源域/免疫球蛋白樣折疊、叢蛋白、轉錄因子(rhd/ipt)家族的蛋白質。這個家族的成員調節參與細胞凋亡、炎癥、免疫反應和致癌過程的基因。這種原癌基因在B淋巴細胞的存活和增殖中起作用。這種基因的突變或擴增與B細胞淋巴瘤,包括霍奇金淋巴瘤有關。該基因的單核苷酸多態性與潰瘍性結腸炎和類風濕性關節炎的易感性相關。選擇性剪接導致編碼不同亞型的多個轉錄變體。
    This gene encodes a protein that belongs to the Rel homology domain/immunoglobulin-like fold, plexin, transcription factor (RHD/IPT) family. Members of this family regulate genes involved in apoptosis, inflammation, the immune response, and oncogenic processes. This proto-oncogene plays a role in the survival and proliferation of B lymphocytes. Mutation or amplification of this gene is associated with B-cell lymphomas, including Hodgkin's lymphoma. Single nucleotide polymorphisms in this gene are associated with susceptibility to ulcerative colitis and rheumatoid arthritis. Alternative splicing results in multiple transcript variants encoding different isoforms.

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