Overview

  • Product name

  • Description

    Rabbit polyclonal to Ext1
  • Host species

    Rabbit
  • Tested applications

    Suitable for: IHC-Pmore details
  • Species reactivity

    Reacts with: Human
  • Immunogen

    antigen sequence, corresponding to amino acids 205-335 of Human Ext1.

  • Positive control

    • Human rectum tissue.

Properties

  • Form

    Liquid
  • Storage instructions

    Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid repeated freeze / thaw cycles.
  • Storage buffer

    pH: 7.20
    Preservative: 0.02% Sodium azide
    Constituents: 59% PBS, 40% Glycerol
  • Concentration information loading...
  • Purity

    Immunogen affinity purified
  • Clonality

    Polyclonal
  • Isotype

    IgG
  • Research areas

Applications

Our Abpromise guarantee covers the use of ab126305 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
IHC-P 1/50 - 1/200. Perform heat mediated antigen retrieval with citrate buffer pH 6 before commencing with IHC staining protocol.

Target

  • Function

    Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor.
  • Tissue specificity

    Ubiquitous.
  • Pathway

    Protein modification; protein glycosylation.
  • Involvement in disease

    Defects in EXT1 are a cause of hereditary multiple exostoses type 1 (EXT1) [MIM:133700]. EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event.
    Defects in EXT1 are a cause of tricho-rhino-phalangeal syndrome type 2 (TRPS2) [MIM:150230]. A syndrome that combines the clinical features of trichorhinophalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation. Note=A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients.
    Defects in EXT1 are a cause of chondrosarcoma (CHDSA) [MIM:215300]. It is a malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas.
  • Sequence similarities

    Belongs to the glycosyltransferase 47 family.
  • Cellular localization

    Endoplasmic reticulum membrane. Golgi apparatus membrane. The EXT1/EXT2 complex is localized in the Golgi apparatus.
  • Information by UniProt
  • Database links

  • Alternative names

    • 4-alpha-N-acetylglucosaminyltransferase antibody
    • exostoses (multiple) 1 antibody
    • Exostosin 1 antibody
    • Exostosin glycosyltransferase 1 antibody
    • Exostosin-1 antibody
    • EXT antibody
    • EXT1 antibody
    • EXT1_HUMAN antibody
    • Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase antibody
    • glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan antibody
    • Langer-Giedion syndrome chromosome region antibody
    • LGCR antibody
    • LGS antibody
    • Multiple exostoses protein 1 antibody
    • Multiple exostoses protein 1 homolog antibody
    • N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase antibody
    • Putative tumor suppressor protein EXT1 antibody
    • TRPS2 antibody
    • TTV antibody
    see all

Images

  • ab126305, at 1/50 dilution, staining Ext1 in paraffin-embedded Human Rectum tissue by Immunohistochemistry.

References

This product has been referenced in:

  • Guo X  et al. A novel splice mutation induces exon skipping of the EXT1 gene in patients with hereditary multiple exostoses. Int J Oncol 54:859-868 (2019). Read more (PubMed: 30664192) »
  • Kero D  et al. Syndecans and Enzymes Involved in Heparan Sulfate Biosynthesis and Degradation Are Differentially Expressed During Human Odontogenesis. Front Physiol 9:732 (2018). IHC-P ; Human . Read more (PubMed: 29962964) »
See all 3 Publications for this product

Customer reviews and Q&As

Question
Answer

DISCOUNT CODE: ***
Expiration date: December 14, 2012
This code will give you 1 free primary antibody before the expiration date. To redeem this offer, please submit an Abreview for ab126305 with mouse samples and include this code in the “Additional Comments” section so we know the Abreview is for this promotion. Please remember that submission of the Abreview is sufficient for the discount code to become active. For more information on how to submit an Abreview, please visit the site: www.abcam.com/Abreviews.
The code will be active once the Abreview has been submitted and can be redeemed in one of the following ways: 1) Call to place your order and mention the code to our customer service department; 2) Include the code in your fax order; 3) Place your order on the web and enter the promotional code.
Any feedback that you can provide will be greatly appreciated, whether positive or negative. If you have any further questions, please do not hesitate to contact us. We look forward to receiving your Abreview and wish you luck with your research.
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