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Recombinant Human ATRX, GST-tagged

Cat.No.: ATRX-10065H
Product Overview: Recombinant Human ATRX protein, fused to GST-tag, was expressed in E.coli and purified by GSH-sepharose.
Description: The protein encoded by this gene 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.
Source: E.coli
Species: Human
Tag: GST
Protein length: 1-87a.a.
Storage: The protein is stored in PBS buffer at -20℃. Avoid repeated freezing and thawing cycles.
Storage Buffer: 1M PBS (58mM Na2HPO4,17mM NaH2PO4, 68mM NaCl, pH8. ) added with 100mM GSH and 1% Triton X-100,15%glycerol.
Gene Name: ATRX alpha thalassemia/mental retardation syndrome X-linked [ Homo sapiens ]
Official Symbol: ATRX
Synonyms: ATRX; alpha thalassemia/mental retardation syndrome X-linked; alpha thalassemia/mental retardation syndrome X linked (RAD54 (S. cerevisiae) homolog) , JMS, Juberg Marsidi syndrome , RAD54; transcriptional regulator ATRX; RAD54 homolog (S. cerevisiae); XH2; XNP; RAD54 homolog; X-linked helicase II; Zinc finger helicase; helicase 2, X-linked; X-linked nuclear protein; ATP-dependent helicase ATRX; DNA dependent ATPase and helicase; alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae); JMS; SHS; ATR2; SFM1; RAD54; MRXHF1; RAD54L; ZNF-HX; MGC2094;
Gene ID: 546
mRNA Refseq: NM_000489
Protein Refseq: NP_000480
MIM: 300032
UniProt ID: P46100
Chromosome Location: Xq21.1
Function: ATP binding; DNA binding; DNA helicase activity; chromatin binding; chromo shadow domain binding; helicase activity; hydrolase activity; metal ion binding; nucleotide binding; protein binding; zinc ion binding;

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