製品の概要

製品の詳細

  • 由来
    Synthetic
  • アミノ酸配列
    • アクセッション番号
    • 生物種
      Human
    • 配列
      DSQNLAGEDKDSQ-C
    • 領域
      2 to 14
    • 配列の追加情報
      Entrez gene ID: 8085

関連製品

特性

Our Abpromise guarantee covers the use of ab23289 in the following tested applications.

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

  • アプリケーション

    Blocking - Blocking peptide for Anti-KMT2D / MLL2 antibody (ab15962)

  • 製品の状態
    Liquid
  • Concentration information loading...

前処理および保存

  • 保存方法および安定性

    Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.

関連情報

  • 別名
    • 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
  • 機能
    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.
  • 組織特異性
    Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver.
  • 関連疾患
    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.
  • 配列類似性
    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.
  • ドメイン
    LXXLL motifs 5 and 6 are essential for the association with ESR1 nuclear receptor.
  • 翻訳後修飾
    Phosphorylated upon DNA damage, probably by ATM or ATR.
  • 細胞内局在
    Nucleus.
  • Information by UniProt

参考文献

ab23289 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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