概述

描述

  • 性质Synthetic
  • 氨基酸序列
    • AccessionO14686
    • 种属Human
    • 序列DSQNLAGEDKDSQ-C
    • 氨基酸2 to 14
    • 额外的序列信息Entrez gene ID: 8085

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技术指标

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.

  • 应用

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

  • 形式Liquid
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

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

常规信息

  • 别名
    • 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
  • 功能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.
  • 组织特异性Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver.
  • 疾病相关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.
  • 序列相似性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.
  • 结构域LXXLL motifs 5 and 6 are essential for the association with ESR1 nuclear receptor.
  • 翻译后修饰Phosphorylated upon DNA damage, probably by ATM or ATR.
  • 细胞定位Nucleus.
  • Information by UniProt

Human KMT2D / MLL2 peptide (ab23289)参考文献

ab23289 has not yet been referenced specifically in any publications.

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