Overview

Description

  • Nature

    Recombinant
  • Source

    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species

      Human
    • Sequence

      MELTQPAEDLIQTQQTPASELGDPEDPGEEAADGSDTVVLSLFPCTPEPV NPEPDASVSSPQGSSLKHSTTLTNRQRGNEVSALPATLDCDNLVNKPDER GFTPLIWASAFGEIETVRFLLEWGADPHILAKERESALSLASTGGYTDIV GLLLERDVDINIYDWNGGTPLLYAVRGNHVKCVEALLARGADLTTEADSG YTPMDLAVALGYRKVQQVIENHILKLFQSNLVPADPE
    • Molecular weight

      52 kDa including tags
    • Amino acids

      1 to 237

Specifications

Our Abpromise guarantee covers the use of ab131794 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    SDS-PAGE

    Western blot

    ELISA

  • Form

    Liquid
  • Additional notes

    Best used within three months from the date of receipt.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names

    • ANKRA1
    • Ankyrin repeat containing regulatory factor X associated protein
    • Ankyrin repeat family A protein 1
    • BLS
    • DNA-binding protein RFXANK
    • F14150_1
    • MGC138628
    • Regulatory factor X associated ankyrin containing protein
    • Regulatory factor X subunit B
    • Regulatory factor X, ankyrin repeat containing
    • Regulatory factor X-associated ankyrin-containing protein
    • RFX Bdelta4
    • RFX-B
    • RFXANK
    • RFXB
    • RFXB delta 4
    • RFXK_HUMAN
    see all
  • Function

    Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator (MHC2TA). May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters. Isoform RFX-B-delta5 is not involved in the positive regulation of MHC class II genes.
  • Tissue specificity

    Ubiquitous.
  • Involvement in disease

    Defects in RFXANK are a cause of bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]; also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency. BLS2 is a severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections.
  • Sequence similarities

    Contains 5 ANK repeats.
  • Domain

    The third ankyrin repeat is required for association with the two other RFX subunits; RFX5 and RFXAP.
  • Cellular localization

    Nucleus.
  • Information by UniProt

Images

  • 12.5% SDS-PAGE analysis of ab131794 stained with Coomassie Blue.

References

ab131794 has not yet been referenced specifically in any publications.

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