该基因编码的蛋白含有一个atpase/螺旋酶结构域,因此属于染色质重塑蛋白的swi/snf家族。这种蛋白被发现经历了细胞周期依赖性磷酸化,它调节其核基质和染色质的结合,并表明它参与有丝分裂的间期基因调节和染色体分离。该基因突变与X连锁精神发育迟滞(XLMR)综合征有关,通常伴有α-地中海贫血(ATRX)综合征。这些突变导致DNA甲基化模式的不同变化,这可能提供染色质重塑、DNA甲基化和发育过程中基因表达之间的联系。已经报道了编码不同亚型的多个选择性剪接转录变体。
The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported.

基因名:ATRX
别名:ATR2,JMS,MRX52,MRXHF1,RAD54,RAD54L,SFM1,SHS,XH2,XNP,ZNF-HX
基因ID:546
Chromosome:
(GRCh37)
HG1426_PATCH Start: 76765832 End: 77047170 Strand: -1
信号通路: 基因组不稳定 
靶向药: AZ20  替莫唑胺  VE-821 
化疗药: 洛莫司汀 丙卡巴肼 长春新碱