该基因编码一种属于rel同源域/免疫球蛋白样折叠、丛蛋白、转录因子(rhd/ipt)家族的蛋白质。这个家族的成员调节参与细胞凋亡、炎症、免疫反应和致癌过程的基因。这种原癌基因在B淋巴细胞的存活和增殖中起作用。这种基因的突变或扩增与B细胞淋巴瘤,包括霍奇金淋巴瘤有关。该基因的单核苷酸多态性与溃疡性结肠炎和类风湿性关节炎的易感性相关。选择性剪接导致编码不同亚型的多个转录变体。
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.

基因名:REL
别名:C-Rel
基因ID:5966
Chromosome:
(GRCh37)
2 Start: 61108656 End: 61158745 Strand: 1
信号通路: 细胞增殖  细胞周期  免疫相关  炎症相关  血管生成  基因组不稳定  肿瘤干细胞 
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