菜单 基因医生

该基因编码髓样易位基因家族的一个成员,该家族与dna结合的转录因子相互作用,并招募一系列的共加压因子以促进转录抑制。t(8;21)(q22;q22)易位是急性髓系白血病最常见的核型异常之一。该易位产生一个嵌合基因,由runt相关转录因子1基因的5'区与该基因的3'区融合而成。该嵌合蛋白被认为与核共加压素/组蛋白脱乙酰酶复合物有关,以阻止造血分化。选择性剪接导致多个转录变体。[由RefSeq提供,2010年11月]
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(8;21)(q22;q22) translocation is one of the most frequent 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. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

基因名:RUNX1T1
别名:CDR,ETO,MTG8,AML1T1,ZMYND2,CBFA2T1,AML1-MTG8
基因ID:862
Chromosome:
(GRCh37)
8 Start: 92967195 End: 93115454 Strand: 
信号通路: 基因组不稳定 
RUNX1T1 基因突变与药物