Full Product Name
Rabbit Anti Human EXT1 PolyClonal Antibody
Product Synonym Names
EXT1; EXT; LGS; TTV; LGCR; TRPS2
Product Gene Name
anti-EXT1 antibody
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Species Reactivity
Human, Mouse, Rat
Purity/Purification
Affinity Purification
Immunogen
Recombinant protein of human EXT1
Relevance
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.
Storage Buffer
Store at -20 degree C or -80 degree C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of anti-EXT1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Applications Tested/Suitable for anti-EXT1 antibody
Western Blot (WB), Immunohistochemistry (IHC)
NCBI/Uniprot data below describe general gene information for EXT1. It may not necessarily be applicable to this product.
NCBI Accession #
NP_000118.2
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NCBI GenBank Nucleotide #
NM_000127.2
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UniProt Secondary Accession #
Q9BVI9; B2R7V2[Other Products]
UniProt Related Accession #
Q16394[Other Products]
Molecular Weight
86,255 Da
NCBI Official Full Name
exostosin-1
NCBI Official Synonym Full Names
exostosin glycosyltransferase 1
NCBI Official Symbol
EXT1??[Similar Products]
NCBI Official Synonym Symbols
EXT; LGS; TTV; LGCR; TRPS2
??[Similar Products]
NCBI Protein Information
exostosin-1; exostosin 1; exostoses (multiple) 1; multiple exostoses protein 1; putative tumor suppressor protein EXT1; Langer-Giedion syndrome chromosome region; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase; Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase; glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
UniProt Protein Name
Exostosin-1
UniProt Synonym Protein Names
Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Multiple exostoses protein 1; Putative tumor suppressor protein EXT1
UniProt Gene Name
EXT1??[Similar Products]
UniProt Entry Name
EXT1_HUMAN
NCBI Summary for EXT1
This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]
UniProt Comments for EXT1
EXT1: 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. Defects in EXT1 are a cause of hereditary multiple exostoses type 1 (EXT1). 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). 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. 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). It is a malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas. Belongs to the glycosyltransferase 47 family.
Protein type: Membrane protein, integral; EC 2.4.1.225; Motility/polarity/chemotaxis; Tumor suppressor; Transferase; Glycan Metabolism - heparan sulfate biosynthesis; EC 2.4.1.224
Chromosomal Location of Human Ortholog: 8q24.11
Cellular Component: Golgi membrane; Golgi apparatus; endoplasmic reticulum membrane; endoplasmic reticulum; integral to membrane; integral to endoplasmic reticulum membrane
Molecular Function: acetylglucosaminyltransferase activity; transferase activity, transferring glycosyl groups; protein homodimerization activity; glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity; glucuronosyltransferase activity; protein heterodimerization activity; metal ion binding; heparan sulfate N-acetylglucosaminyltransferase activity; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity
Biological Process: axon guidance; ossification; cellular polysaccharide biosynthetic process; glycosaminoglycan metabolic process; olfactory bulb development; protein amino acid glycosylation; pathogenesis; gastrulation; signal transduction; glycosaminoglycan biosynthetic process; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; carbohydrate metabolic process; heparan sulfate proteoglycan biosynthetic process; mesoderm development; skeletal development; endoderm development
Disease: Chondrosarcoma; Exostoses, Multiple, Type I
Research Articles on EXT1
1. A, of EXT1, first identified in Chinese population, may be responsible for HME in the studied pedigree. EXT1 and EXT2 mutation rates may be different between the Chinese and Western populations">splicing mutation, IVS5+1G>A, of EXT1, first identified in Chinese population, may be responsible for HME in the studied pedigree. EXT1 and EXT2 mutation rates may be different between the Chinese and Western populations
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