Recombinant Full Length Human ATRX Protein, C-His-tagged

• Cat.No.: ATRX-13HFL
• Product Overview: Purified recombinant Full Length protein of Human alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, with N-terminal His tag, 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. 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. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as 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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported.
• Source: E. coli
• Species: Human
• Tag: N-His
• Molecular Mass: 18.3 kDa
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Notes: For testing in cell culture applications, please filter before use. Note that you may experience some loss of protein during the filtration process.
• Stability: Stable for 12 months from the date of receipt of the product under proper storage and handling conditions. Avoid repeated freeze-thaw cycles.
• Storage: Store at -80 centigrade.
• Concentration: >50 μg/mL as determined by microplate BCA method
• Storage Buffer: 25 mM Tris-HCl, pH 8.0, 150 mM NaCl, 10% glycerol

Gene Information

• Gene Name: ATRX alpha thalassemia/mental retardation syndrome X-linked [ Homo sapiens (human) ]
• 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