该基因编码的蛋白质是属于pebp2/cbf转录因子家族的异二聚体核心结合转录因子的β亚单位,该转录因子家族主要调控造血(例如runx1)和成骨(例如runx2)特异性基因的宿主。β亚单位是一种非DNA结合调节亚单位;当复合物与各种增强子和启动子(包括小鼠白血病病毒、多瘤病毒增强子、T细胞受体增强子和GM-CSF启动子)的核心部位结合时,它通过α亚单位变构增强DNA结合。选择性剪接产生两个mRNA变异体,每个变异体编码一个不同的羧基末端。在某些情况下,16号染色体的中心周围逆转录[inv(16)(p13q22)]在与平滑肌肌球蛋白重链11的C端部分融合时产生由核结合因子β的N端组成的嵌合转录物。这种染色体重排与M4EO亚型的急性髓性白血病有关。两个编码不同亚型的转录变体已经被发现。
The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene.

基因名:CBFB
别名:PEBP2B
基因ID:865
Chromosome:
(GRCh37)
16 Start: 67063019 End: 67134961 Strand: 1
信号通路: 炎症相关 
登录 后查看 CBFB基因突变 详细信息。