ATRX is encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. The ATRX gene is frequently mutated in a variety of tumors, including adult lower-grade gliomas, pediatric glioblastoma multiforme, pediatric adrenocortical carcinoma, osteosarcoma, and neuroblastoma. 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. 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.
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