CBFB是抑癌基因,CBFB(核心结合因子,β亚基)编码蛋白为一种异源二聚体转录因子成分,其与核心结合因子α成分RUNX1/2/3 (RUNT相关转录因子)蛋白一起形成转录因子复合物。CBFB是一种参与转录激活的蛋白,在急性髓性白血病的一个子集中被染色体重排所改变。CBFB是非DNA结合亚基,其功能是增强CBFα成分与DNA结合。CBF复合物可以靶向激活或抑制特定基因,并且招募活化或抑制辅因子,例如p300和HDAC(组蛋白脱乙酰酶)。CBFB与RUNX2形成复合物调节造血过程中的重要步骤,例如细胞周期进程、分化和发育等过程。CBFB与RUNX2形成复合物用于调节骨骼发育。16号染色体的倒位可导致CBFB-MYH11(肌球蛋白重链11)融合,并与M4型急性髓系白血病相关,并常伴有嗜酸性粒细胞增多。这种融合蛋白破坏CBF复合物并导致造血阻滞。CBFB也可能影响实体肿瘤的发展,已在乳腺癌和宫颈癌样本中检测到CBFB基因突变。
The CBFB (core-binding factor, beta subunit) gene encodes a heterodimeric transcription factor component, that together with a core-binding factor alpha component, RUNX1/2/3 (Runt related transcription factor) proteins, forms a transcription factor complex. CBFB is a non-DNA binding subunit that functions to enhance the DNA binding of the CBF alpha component. The CBF complex targets specific genes for activation or repression and also recruits activating or repressive cofactors such as p300 and HDACs (Histone deacetylases). CBFB complexed with RUNX1 regulates important steps in hematopoiesis through processes such as cell cycle progression, differentiation and development. With RUNX2, CBFB regulates skeletal development. Inversion of chromosome 16 can result in a CBFB-MYH11 (Myosin heavy chain 11) fusion gene and is associated with the M4 type of acute myeloid leukemia, and often with associated eosinophilia. This fusion protein disrupts the CBF complex and results in a block in hematopoiesis. CBFB may also influence solid tumor development, as mutations have been identified in breast and cervical cancer samples.
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