与白血病相关的CBFA2T3基因编码功能描述

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.