Overview

  • Product name

    Anti-KMT2D / MLL2 antibody
    See all KMT2D / MLL2 primary antibodies
  • Description

    Rabbit polyclonal to KMT2D / MLL2
  • Host species

    Rabbit
  • Tested applications

    Suitable for: WBmore details
  • Species reactivity

    Reacts with: Mouse
  • Immunogen

    Synthetic peptide corresponding to Mouse KMT2D/ MLL2 (internal sequence) conjugated to keyhole limpet haemocyanin. Three peptides.
    Database link: Q6PDK2

  • Positive control

    • WB: Mouse embryonic stem cell (E14Tg2a) whole cell lysate.

Properties

Applications

Our Abpromise guarantee covers the use of ab231239 in the following tested applications.

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

Application Abreviews Notes
WB 1/500.

Target

  • Function

    Histone methyltransferase. Methylates 'Lys-4' of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription. Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development. Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation.
  • Tissue specificity

    Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver.
  • Involvement in disease

    Defects in MLL2 are the cause of Kabuki syndrome (KABS) [MIM:147920]. It is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy.
  • Sequence similarities

    Belongs to the histone-lysine methyltransferase family. TRX/MLL subfamily.
    Contains 1 FY-rich C-terminal domain.
    Contains 1 FY-rich N-terminal domain.
    Contains 5 PHD-type zinc fingers.
    Contains 1 post-SET domain.
    Contains 4 RING-type zinc fingers.
    Contains 1 SET domain.
  • Domain

    LXXLL motifs 5 and 6 are essential for the association with ESR1 nuclear receptor.
  • Post-translational
    modifications

    Phosphorylated upon DNA damage, probably by ATM or ATR.
  • Cellular localization

    Nucleus.
  • Information by UniProt
  • Database links

  • Alternative names

    • AAD10 antibody
    • ALL1 related gene antibody
    • ALL1-related protein antibody
    • ALR antibody
    • CAGL114 antibody
    • Histone-lysine N-methyltransferase MLL2 antibody
    • KABUK1 antibody
    • Kabuki make up syndrome antibody
    • Kabuki mental retardation syndrome antibody
    • KMS antibody
    • KMT2B antibody
    • KMT2D antibody
    • Lysine N methyltransferase 2D antibody
    • Lysine N-methyltransferase 2B antibody
    • MLL2 antibody
    • MLL2_HUMAN antibody
    • MLL4 antibody
    • Myeloid/lymphoid or mixed lineage leukemia 2 antibody
    • Myeloid/lymphoid or mixed-lineage leukemia protein 2 antibody
    • TNRC21 antibody
    • Trinucleotide repeat containing 21 antibody
    see all

Images

  • All lanes : Anti-KMT2D / MLL2 antibody (ab231239) at 1/500 dilution

    Lane 1 : Mouse embryonic stem cells (E14Tg2a) whole cell lysate (Heterozygous knockout)
    Lanes 2-3 : Mouse embryonic stem cells (E14Tg2a) whole cell lysate (Homozygous knockout)
    Lane 4 : Mouse embryonic stem cells (E14Tg2a) whole cell lysate (flp recombined)


    Cells homozygous for the targeted KMT2D / MLL2 allele (-/-) show a complete loss of KMT2D / MLL2 protein, whereas the KMT2D / MLL2 protein was detected in fp-recombined ES cells (F/F) and heterozygously targeted ES cells (+/-).

    Dilution buffer: PBS-Tween containing 5% skimmed milk. 

References

ab231239 has not yet been referenced specifically in any publications.

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