Key features and details
- Rabbit polyclonal to Ext1
- Suitable for: IHC-P
- Reacts with: Human
- Isotype: IgG
Product nameAnti-Ext1 antibody
DescriptionRabbit polyclonal to Ext1
Tested applicationsSuitable for: IHC-Pmore details
Species reactivityReacts with: Human
antigen sequence, corresponding to amino acids 205-335 of Human Ext1.
- Human rectum tissue.
Storage instructionsShipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid repeated freeze / thaw cycles.
Storage bufferpH: 7.20
Preservative: 0.02% Sodium azide
Constituents: 40% Glycerol, 59% PBS
Concentration information loading...
PurityImmunogen affinity purified
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.
|IHC-P||1/50 - 1/200. Perform heat mediated antigen retrieval with citrate buffer pH 6 before commencing with IHC staining protocol.|
FunctionGlycosyltransferase 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.
PathwayProtein modification; protein glycosylation.
Involvement in diseaseDefects 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 similaritiesBelongs to the glycosyltransferase 47 family.
Cellular localizationEndoplasmic reticulum membrane. Golgi apparatus membrane. The EXT1/EXT2 complex is localized in the Golgi apparatus.
- Information by UniProt
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ab126305 has been referenced in 3 publications.
- 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). 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 . PubMed: 29962964
- 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 . PubMed: 24009674