基因名：
ATRX
产品别名：
JMS； MRX52； RAD54； RAD54L； XH2； XNP； ZNF-HX； ATRX； ATRX chromatin remodeler； ATRX chromatin remodeler； transcriptional regulator ATRX； ATP-dependent helicase ATRX； X-linked helicase II； X-linked nuclear protein； ATP依赖性解旋酶ATRX； X-连锁α-地中海贫血/智力低下综合征蛋白(aTRX)；
背景信息：
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 X-linked syndromes exhibiting cognitive disabilities as well as 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. [provided by RefSeq, Jul 2017]
