Overview

  • Product name

    Anti-KMT3B / NSD1 antibody
    See all KMT3B / NSD1 primary antibodies
  • Description

    Rabbit polyclonal to KMT3B / NSD1
  • Host species

    Rabbit
  • Tested applications

    Suitable for: ICC/IFmore details
  • Species reactivity

    Reacts with: Human
  • Immunogen

    Recombinant fragment corresponding to Human KMT3B/ NSD1 aa 1105-1185.
    Sequence:

    FSDVHFDSKVKQSDPGKISEKGLSFENGKGPELDSVMNSENDELNGVNQV VPKKRWQRLNQRRTKPRKRMNRFKEKENSEC


    Database link: Q96L73

  • Positive control

    • ICC/IF: HEK-293 cells.

Properties

Applications

Our Abpromise guarantee covers the use of ab226247 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
ICC/IF Use a concentration of 1 - 4 µg/ml.

Fixation/Permeabilization: PFA/Triton X-100.

Target

  • Function

    Histone methyltransferase. Preferentially methylates 'Lys-36' of histone H3 and 'Lys-20' of histone H4 (in vitro). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context.
  • Tissue specificity

    Expressed in the fetal/adult brain, kidney, skeletal muscle, spleen, and the thymus, and faintly in the lung.
  • Involvement in disease

    Defects in NSD1 are the cause of Sotos syndrome (SOTOSS) [MIM:117550]; also known as cerebral gigantism. It is a disorder characterized by excessively rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw are noted in several patients. Most cases of Sotos syndrome are sporadic and may represent new dominant mutation.
    Defects in NSD1 are the cause of Weaver syndrome (WES) [MIM:277590]. WES is a syndrome of accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly.
    Defects in NSD1 are a cause of Beckwith-Wiedemann syndrome (BWS) [MIM:130650]. BWS is a genetically heterogeneous disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors.
    Note=A chromosomal aberration involving NSD1 is found in childhood acute myeloid leukemia. Translocation t(5;11)(q35;p15.5) with NUP98.
    Note=A chromosomal aberration involving NSD1 is found in an adult form of myelodysplastic syndrome (MDS). Insertion of NUP98 into NSD1 generates a NUP98-NSD1 fusion product.
  • Sequence similarities

    Belongs to the histone-lysine methyltransferase family.
    Contains 1 AWS domain.
    Contains 4 PHD-type zinc fingers.
    Contains 1 post-SET domain.
    Contains 2 PWWP domains.
    Contains 1 SET domain.
  • Cellular localization

    Nucleus. Chromosome.
  • Information by UniProt
  • Database links

  • Alternative names

    • Androgen receptor coactivator 267 kDa protein antibody
    • Androgen receptor-associated protein of 267 kDa antibody
    • ARA267 antibody
    • H3 K36 HMTase antibody
    • H3-K36-HMTase antibody
    • H4 K20 HMTase antibody
    • H4-K20-HMTase antibody
    • Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific antibody
    • KMT3B antibody
    • Lysine N-methyltransferase 3B antibody
    • NR binding SET domain containing protein antibody
    • NR-binding SET domain-containing protein antibody
    • Nsd1 antibody
    • NSD1_HUMAN antibody
    • Nuclear receptor binding SET domain containing protein 1 antibody
    • Nuclear receptor binding SET domain protein 1 antibody
    • Nuclear receptor-binding SET domain-containing protein 1 antibody
    see all

Images

  • PFA-fixed, Triton X-100 permeabilized HEK-293 (human epithelial cell line from embryonic kidney) cells stained for KMT3B / NSD1 (green) using ab226247 at 4 µg/ml in ICC/IF.

References

ab226247 has not yet been referenced specifically in any publications.

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