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Invitrogen
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Highest antigen sequence indentity to the following orthologs: Mouse (51%), Rat (51%).
This recombinant protein control fragment may be used for blocking experiments with the corresponding antibody, PA5-84664. In IHC/ICC and WB experiments, we recommend a 100x molar excess of the protein fragment control based on the concentration and the molecular weight. Pre-incubate the antibody-protein control fragment mixture for 30 min at room temperature.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
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
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