Overview

Description

  • Nature

    Recombinant
  • Source

    Escherichia coli
  • Amino Acid Sequence
    • Accession
    • Species

      Human
    • Sequence

      MGSSHHHHHH SSGLVPRGSH MGSMEELEQG LLMQPWAWLQ LAENSLLAKV FITKQGYALL VSDLQQVWHE QVDTSVVSQR AKELNKRLTA PPAAFLCHLD NLLRPLLKDA AHPSEATFSC DCVADALILR VRSELSGLPF YWNFHCMLAS PSLVSQHLIR PLMGMSLALQ CQVRELATLL HMKDLEIQDY QESGATLIRD RLKTEPFEEN SFLEQFMIEK LPEACSIGDG KPFVMNLQDL YMAVTTQ
    • Molecular weight

      28 kDa including tags
    • Amino acids

      1 to 224
    • Tags

      His tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab131670 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

    Mass Spectrometry

  • Mass spectrometry

    MALDI-TOF
  • Purity

    > 90 % SDS-PAGE.
    Purified using conventional chromatography techniques.
  • Form

    Liquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle.

    pH: 8.00
    Constituents: 0.02% DTT, 0.32% Tris HCl, 20% Glycerol, 0.58% Sodium chloride

General Info

  • Alternative names

    • Cernunnos
    • FLJ12610
    • NHEJ 1
    • Nhej1
    • NHEJ1, S. cerevisiae, homolog of
    • NHEJ1_HUMAN
    • Non homologous end joining factor 1
    • Non-homologous end-joining factor 1
    • Nonhomologous end joining factor 1
    • OTTHUMP00000164168
    • OTTHUMP00000206275
    • OTTHUMP00000206279
    • Protein cernunnos
    • XLF
    • XRCC4 like factor
    • XRCC4-like factor
    see all
  • Function

    DNA repair protein involved in DNA nonhomologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. May serve as a bridge between XRCC4 and the other NHEJ factors located at DNA ends, or may participate in reconfiguration of the end bound NHEJ factors to allow XRCC4 access to the DNA termini. It may act in concert with XRCC6/XRCC5 (Ku) to stimulate XRCC4-mediated joining of blunt ends and several types of mismatched ends that are noncomplementary or partially complementary.
  • Tissue specificity

    Ubiquitously expressed.
  • Involvement in disease

    Defects in NHEJ1 are the cause of severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291]; also known as autosomal recessive T cell-negative, B cell-negative, NK cell-positive, severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation or NHEJ1 syndrome. SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. NHEJ1-SCID is characterized by a profound T- and B-lymphocytopenia associated with increased cellular sensitivity to ionizing radiation, microcephaly and growth retardation. Some patients may manifest SCID with sensitivity to ionizing radiation without microcephaly and mild growth retardation, probably due to hypomorphic NHEJ1 mutations.
    Note=A chromosomal aberration involving NHEJ1 is found in a patient with polymicrogyria. Translocation t(2;7)(q35;p22).
  • Sequence similarities

    Belongs to the XLF family.
  • Cellular localization

    Nucleus.
  • Information by UniProt

Images

  • 15% SDS-PAGE showing ab131670 at approximately 27.8 kDa (3µg).

References

ab131670 has not yet been referenced specifically in any publications.

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