ATRX综合征的英文名字是ATRX syndrome。基因解码表明:ATRX综合征是一种罕见的遗传性疾病,与ATRX基因的突变有关。ATRX基因位于X染色体上,突变会导致ATRX蛋白的功能异常或缺失。 ATRX综合征主要由于ATRX基因的突变引起。这些突变可以是点突变、插入突变、缺失突变或重复突变等。这些突变会导致ATRX蛋白的结构或功能发生改变,...
ATRX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,因此ATRX对于保持基因组稳定性至关重要。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-地中海贫血伴智力低下综合征(X-linked al...
ATRX综合征的英文名字是ATRX syndrome。基因解码表明:ATRX综合征是一种罕见的遗传性疾病,主要由ATRX基因的突变引起。ATRX基因位于X染色体上,编码ATRX蛋白,该蛋白在细胞核中发挥重要作用。 ATRX综合征的分子检测基础主要包括以下几个方面: 1. 基因突变检测:通过对ATRX基因进行测序分析,检测基因是否存在突变或缺失。常用的...
ATRX 基因简介 中英文全称:α 地中海贫血/智力低下综合征X 连锁(RAD54 同源物, 芽殖酵母) alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) 分布:核|核异染 色质 活性:核苷酸结合|DNA 解旋酶|转录因子|ATP 结合| 锌离子结合|水解酶|金属离子结合 参与:DNA 修复|DNA ...
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,...
Cohn DM, Pagon RA, Hudgins L, Schwartz CE, Stevenson RE, Friez MJ (2009) Partial ATRX gene duplication causes ATR-X syndrome. Am J Med Genet A 149A:2317–2320 View ArticlePartialATRXgene duplication causes ATR-X syndrome. Dianne M Cohn,Roberta A Pagon,Louanne Hudgins,Charles E Schwartz...
(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 ...
The syndrome is clinically heterogeneous with a broad phenotypic spectrum. Although, alpha-thalassaemia is commonly present, it may not manifest in some patients. Case report: A novel missence mutation (NM_000489: ATRX; c.6130C > T; p.Leu2044Phe) was detected in the ATR-X gene in two ...
1、atrx基因位于xq21.1,全长281kb,全称为“x连锁α地中海贫血/智力障碍综合征基因”(alpha thalassemia/mental retardation syndrome x-linked);atrx基因是一个重要的染色质重塑蛋白编码基因,属于swi/snf家族,其所编码的蛋白质在细胞内扮演着调控基因表达的关键角色,特别是通过在端粒和其他基因重复序列处沉积组蛋白变异...