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ATRX encodes a protein that contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. The mutations of 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. 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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported.
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Protein Aliases: alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae); ATP-dependent helicase ATRX; DNA dependent ATPase and helicase; helicase 2; helicase 2, X-linked; mental retardation, X-linked 52; RP5-875J14.1; Transcriptional regulator ATRX; X-linked helicase II; X-linked nuclear protein; XNP; Zinc finger helicase; Znf-HX
Gene Aliases: ATR2; ATRX; JMS; MRX52; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
UniProt ID: (Human) P46100
Entrez Gene ID: (Human) 546