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  • Specifications

    Product Description

    Human ATRX partial ORF ( NP_000480, 2311 a.a. - 2410 a.a.) recombinant protein with GST-tag at N-terminal.

    Sequence

    FNLGALSAMSNQQLEDLINQGREKVVEATNSVTAVRIQPLEDIISAVWKENMNLSEAQVQALALSRQASQELDVKRREAIYNDVLTKQQMLISCVQRILM

    Host

    Wheat Germ (in vitro)

    Theoretical MW (kDa)

    36.74

    Interspecies Antigen Sequence

    Mouse (97)

    Preparation Method

    in vitro wheat germ expression system

    Purification

    Glutathione Sepharose 4 Fast Flow

    Quality Control Testing

    12.5% SDS-PAGE Stained with Coomassie Blue.

    Storage Buffer

    50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

    Storage Instruction

    Store at -80°C. Aliquot to avoid repeated freezing and thawing.

    Note

    Best use within three months from the date of receipt of this protein.

  • Applications

    Enzyme-linked Immunoabsorbent Assay

    Western Blot (Recombinant protein)

    Antibody Production

    Protein Array

  • Gene Info — ATRX

    Entrez GeneID

    546

    GeneBank Accession#

    NM_000489

    Protein Accession#

    NP_000480

    Gene Name

    ATRX

    Gene Alias

    ATR2, MGC2094, MRXHF1, RAD54, RAD54L, SFM1, SHS, XH2, XNP, ZNF-HX

    Gene Description

    alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)

    Omim ID

    300032 300448 301040 309580

    Gene Ontology

    Hyperlink

    Gene Summary

    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. [provided by RefSeq

    Other Designations

    DNA dependent ATPase and helicase|OTTHUMP00000024265|OTTHUMP00000062079|X-linked nuclear protein|Zinc finger helicase|helicase 2, X-linked|transcriptional regulator ATRX

  • Interactomes
  • Diseases