Overview

  • Product name

    Recombinant Human KMT2D / MLL2 protein
  • Protein length

    Protein fragment

Description

  • Nature

    Recombinant
  • Source

    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species

      Human
    • Sequence

      SKLEGMFPAYLQEAFFGKELLDLSRKALFAVGVGRPSFGLGTPKAKGDGG SERKELPTSQKGDDGPDIADEESRGLEGKADTPGPEDGGVKASPVPSDPE
    • Molecular weight

      37 kDa including tags
    • Amino acids

      1487 to 1586

Specifications

Our Abpromise guarantee covers the use of ab152839 in the following tested applications.

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

  • Applications

    ELISA

    Western blot

    SDS-PAGE

  • Form

    Liquid
  • Additional notes

    Protein concentration is above or equal to 0.05 µg/µl.
  • 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

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

Images

  • 12.5% SDS-PAGE analysis of ab152839 stained with Coomassie Blue.

References

ab152839 has not yet been referenced specifically in any publications.

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