Recombinant Human ATRX protein, His-tagged

• Cat.No.: ATRX-10066H
• Product Overview: Recombinant Human ATRX(1-87aa) fused with His tag at N-terminal was expressed in E. coli.

Specification

• 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: His
• Form: 1M PBS (58 mM Na2HPO4, 17 mM NaH2PO4, 68 mM NaCl, pH8.0 ), added with 300 mM Imidazole and 0.7% sarcosyl, 15% glycerol.
• Protein length: 1-87aa
• AA Sequence: MTAEPMSESKLNTLVQKLHDFLAHS SEESEETSSPPRLAMNQNTDKISGS GSNSDMMENSKEEGTSSSEKSKSSG SSRSKRKPSIVN
• Stability: Aliquot and store at -20 centigrade to -80 centigrade for up to 6 months. Avoid freeze thaw cycles.
• Shipping: The product is shipped with ice packs. Upon receipt, store it immediately at -20 centigrade to -80 centigrade.

Gene Information

• 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