EXT1 Antibody 1 Publications

Rabbit Polyclonal| Catalog number: 10117-1-AP

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Freight/Packing

Con: 20 μg/150 μl

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Tested Applications

Applications:
ELISA, IHC, IF
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Species specificity:
human, mouse, rat

Recommended dilution:

Product Information


Source:
Rabbit

Purification method:
Antigen affinity purification

Isotype:
IgG

Storage:
PBS with 0.1% sodium azide and 50% glycerol pH 7.3. Store at -20oC. Aliquoting is unnecessary for -20oC storage.

Immunogen Information


Full name:
exostoses (multiple) 1

Calculated molecular weight:
86 kDa

Observed molecular weight:

GenBank accession number:

Gene ID (NCBI):

Gene symbol
EXT1

Synonyms
EXT1, LGS, EXT, LGCR, ttv
Background

Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the formation of cartilage-capped tumors (exostoses) that develop from the growth plate of endochondral bone. This condition can lead to skeletal abnormalities, short stature and malignant transformation of exostoses to chondrosarcomas or osteosarcomas. Linkage analyses have identified three different genes for EXT, EXT1 on 8q24.1, EXT2 on 11p11-13 and EXT3 on 19p, a family of tumor suppressor genes. Most EXT cases have been attributed to missense or frameshift mutations, which lead to loss of function of the EXT genes. EXT1 is an ER-resident type II transmembrane glycoprotein and a heparan sulphate polymerase with both D-glucuronyl and N-acetyl-D-glucosaminoglycan transferase activities. Expression of EXT1 in cells results in the alteration of the synthesis and display of cell surface heparan sulfate glycosaminoglycans. EXT1 mutations have been identified in multiple types of human tumors.


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