GENETIC ENCYCLOPEDIA
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gene: ATRX

id546
symbolATRX
organismHomo sapiens
full nameATRX chromatin remodeler
summaryThe 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]
variant-disease

NM_000489.5(ATRX):c.1438A>G (p.Thr480Ala) AND not provided

NM_000489.5(ATRX):c.228G>A (p.Ser76=) AND not specified

NM_000489.5(ATRX):c.189G>A (p.Glu63=) AND not specified

NM_000489.5(ATRX):c.2680A>C (p.Thr894Pro) AND not specified

NM_000489.5(ATRX):c.2000C>T (p.Pro667Leu) AND not specified

... 579 more


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