菜单 基因医生

该基因通过与小鼠bcl11a/evi9蛋白的相似性编码c2h2型锌指蛋白。相应的小鼠基因是髓系白血病逆转录病毒整合的共同位点,可能通过与BCL6的相互作用发挥白血病疾病基因的功能在造血细胞分化过程中,这个基因被下调。它可能参与淋巴瘤的发病机制,因为与b细胞恶性肿瘤相关的易位也解除了它的表达调控。已发现该基因的多个转录变体编码多种不同的亚型。[由RefSeq提供,2008年7月]
This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

基因名:BCL11A
别名:EVI9,CTIP1,DILOS,ZNF856,HBFQTL5,BCL11A-L,BCL11A-S,BCL11a-M,BCL11A-XL
基因ID:53335
Chromosome:
(GRCh37)
2 Start: 60678302 End: 60780633 Strand: 
信号通路:  
BCL11A 基因突变与药物