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Background
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ATRX 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. Theses 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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Background
References
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- Mazina, O.M., et al., J. Biol. Chem. 279(50):52042-52051 (2004).
- Tang, P., et al., Trends Endocrinol. Metab. 15(7):339-344 (2004).
- Beausoleil, S.A., et al., Proc. Natl. Acad. Sci. U.S.A. 101(33):12130-12135 (2004).
- Steensma, D.P., et al., Blood 103(6):2019-2026 (2004).
- Tang, J., et al., J. Biol. Chem. 279(19):20369-20377 (2004).
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