Recombinant Human ATRX protein, GST-tagged

• Cat.No.: ATRX-1028H
• Product Overview: Human ATRX full-length ORF ( AAH02521, 1 a.a. - 90 a.a.) recombinant protein with GST-tag at N-terminal.

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 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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2013]
• Source: Wheat Germ
• Species: Human
• Tag: GST
• Molecular Mass: 35.53 kDa
• AA Sequence: MTAEPMSESKLNTLVQKLHDFLAHS SEESEETSSPPRLAMNQNTDKISGS GSNSDMMENSKEEGTSSSEKSKSSG SSRSKRKPSIVNKND
• Applications: Enzyme-linked Immunoabsorbent Assay; Western Blot (Recombinant protein); Antibody Production; Protein Array
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

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