该基因编码髓系易位基因家族的一个成员,该家族与DNA结合转录因子相互作用,并招募一系列共加压因子以促进转录抑制。T(16;21)(q24;q22)易位是急性髓性白血病较少见的核型异常之一。易位产生一个由RUNT相关转录因子1基因的5’-区与该基因的3’-区融合构成的嵌合基因。这个基因也是一个假定的乳腺肿瘤抑制基因。选择性剪接导致转录变异。
This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants.

基因名:CBFA2T3
别名:ETO2,MTG16,MTGR2,RUNX1T3,ZMYND4
基因ID:863
Chromosome:
(GRCh37)
16 Start: 88941266 End: 89043612 Strand: -1
信号通路:  
CBFA2T3 基因突变与药物

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