Overview

  • Product name
  • Description
    Rabbit polyclonal to Ext1
  • Tested applications
    Suitable for: IHC-P, WBmore 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.
WB 1/100 - 1/250. Predicted molecular weight: 86 kDa.

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

  • All lanes : Anti-Ext1 antibody (ab126305) at 1/100 dilution

    Lane 1 : Negative control (vector only transfected HEK293T lysate)
    Lane 2 : Over-expression lysate (co-expressed with C-terminal myc-DDK tag (~3.1kDa) in HEK293T cells


    Predicted band size : 86 kDa
  • ab126305, at 1/50 dilution, staining Ext1 in paraffin-embedded Human Rectum tissue by Immunohistochemistry.

References

This product has been referenced in:
  • Zhang F  et al. Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas. PLoS One 8:e72316 (2013). IHC-P ; Human . Read more (PubMed: 24009674) »

See 1 Publication for this product

Customer reviews and Q&As

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 “Add...

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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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