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EXT1 cdna clone

Scan QR to view Datasheet Catalog #    MBS1267455 EXT1 cdna clone
Unit / Price
0.01 mg Plasmid + 0.2 mL Glycerol-Stock  /  $165 +1 FREE 8GB USB
 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

EXT1, cDNA Clone

★Popular Item★
 Also Known As   

EXT1 cDNA Clone

 Product Gene Name   

EXT1 cdna clone

[Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 Molecular Biology Protocol    Molecular Biology Protocol
 Frequently Asked Questions    Frequently Asked Questions
 Sequence    atgcaggcca aaaaacgcta tttcatcctg ctctcagctg gctcttgtct cgcccttttg ttttatttcg gaggcttgca gtttagggca tcgaggagcc acagccggag agaagaacac agcggtagga atggcttgca ccaccccagt ccggatcatt tctggccccg cttcccggac gctctgcgcc ccttcgttcc ttgggatcaa ttggaaaacg aggattccag cgtgcacatt tccccccggc agaagcgaga tgccaactcc agcatctaca aaggcaagaa gtgccgcatg gagtcctgct tcgatttcac cctttgcaag aaaaacggct tcaaagtcta cgtataccca cagcaaaaag gggagaaaat cgccgaaagt taccaaaaca ttctagcggc catcgagggc tccaggttct acacctcgga ccccagccag gcgtgcctct ttgtcctgag tctggatact ttagacagag accagttgtc acctcagtat gtgcacaatt tgagatccaa agtgcagagt ctccacttgt ggaacaatgg taggaatcat ttaattttta atttatattc cggcacttgg cctgactaca ccgaggacgt ggggtttgac atcggccagg cgatgctggc caaagccagc atcagtactg aaaacttccg acccaacttt gatgtttcta ttcccctctt ttctaaggat catcccagga caggagggga gagggggttt ttgaagttca acaccatccc tcctctcagg aagtacatgc tggtattcaa ggggaagagg tacctgacag ggataggatc agacaccagg aatgccttat atcacgtcca taacggggag gacgttgtgc tcctcaccac ctgcaagcat ggcaaagact ggcaaaagca caaggattct cgctgtgaca gagacaacac cgagtatgag aagtatgatt atcgggaaat gctgcacaat gccactttct gtctggttcc tcgtggtcgc aggcttgggt ccttcagatt cctggaggct ttgcaggctg cctgcgtccc tgtgatgctc agcaatggat gggagttgcc attctctgaa gtgattaatt ggaaccaagc tgccgtcata ggcgatgaga gattgttatt acagattcct tctacaatca ggtctattca tcaggataaa atcctagcac ttagacagca gacacaattc ttgtgggagg cttatttttc ttcagttgag aagattgtat taactacact agagattatt caggacagaa tattcaagca catatcacgt aacagtttaa tatggaacaa acatcctgga ggattgttcg tactaccaca gtattcatct tatctgggag attttcctta ctactatgct aatttaggtt taaagccccc ctccaaattc actgcagtca tccatgcggt gacccccctg gtctctcagt cccagccagt gttgaagctt ctcgtggctg cagccaagtc ccagtactgt gcccagatca tagttctatg gaattgtgac aagcccctac cagccaaaca ccgctggcct gccactgctg tgcctgtcgt cgtcattgaa ggagagagca aggttatgag cagccgtttt ctgccctacg acaacatcat cacagacgcc gtgctcagcc ttgacgagga cacggtgctt tcaacaacag aggtggattt cgccttcaca gtgtggcaga gcttccctga gaggattgtg gggtaccccg cgcgcagcca cttctgggat aactctaagg agcggtgggg atacacatca aagtggacga acgactactc catggtgttg acaggagctg ctatttacca caaatattat cactacctat actcccatta cctgccagcc agcctgaaga acatggtgga ccaattggcc aattgtgagg acattctcat gaacttcctg gtgtctgctg tgacaaaatt gcctccaatc aaagtgaccc agaagaagca gtataaggag acaatgatgg gacagacttc tcgggcttcc cgttgggctg accctgacca ctttgcccag cgacagagct gcatgaatac gtttgccagc tggtttggct acatgccgct gatccactct cagatgaggc tcgaccccgt cctctttaaa gaccaggtct ctattttgag gaagaaatac cgagacattg agcgactttg a
 OMIM    133700
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 Vector    pENTR223.1
 Clone Sequence Report    Provided with product shipment
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 ISO Certification    Manufactured in an ISO 9001:2008 Certified Laboratory.
 Other Notes    Small volumes of EXT1 cdna clone 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.
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NCBI/Uniprot data below describe general gene information for EXT1. It may not necessarily be applicable to this product.
 NCBI GI #    12654670
 NCBI GeneID    2131
 NCBI Accession #    BC001174 [Other Products]
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 UniProt Secondary Accession #    Q9BVI9; B2R7V2 [Other Products]
 UniProt Related Accession #    Q16394 [Other Products]
 Molecular Weight    86,255 Da
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 NCBI Official Full Name    Homo sapiens exostoses (multiple) 1, mRNA
 NCBI Official Synonym Full Names    exostosin glycosyltransferase 1
 NCBI Official Symbol    EXT1 [Similar Products]
 NCBI Official Synonym Symbols   
[Similar Products]
 NCBI Protein Information    exostosin-1
 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
 Protein Family    Extensin
 UniProt Gene Name    EXT1 [Similar Products]
 UniProt Entry Name    EXT1_HUMAN
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 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]
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 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: EC; EC; Transferase; Membrane protein, integral; Motility/polarity/chemotaxis; Tumor suppressor; Glycan Metabolism - heparan sulfate biosynthesis

Chromosomal Location of Human Ortholog: 8q24.11

Cellular Component: endoplasmic reticulum; Golgi apparatus; Golgi membrane; integral to endoplasmic reticulum membrane; integral to membrane

Molecular Function: acetylglucosaminyltransferase activity; glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity; glucuronosyltransferase activity; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity; protein heterodimerization activity; protein homodimerization activity; transferase activity, transferring glycosyl groups

Biological Process: cellular polysaccharide biosynthetic process; glycosaminoglycan biosynthetic process; heparan sulfate proteoglycan biosynthetic process; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; ossification; signal transduction; skeletal development

Disease: Chondrosarcoma; Exostoses, Multiple, Type I
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 Research Articles on EXT1    1. Ext1 heterozygosity causes a modest effect on postprandial lipid clearance in humans
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 Precautions    All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
 Disclaimer    While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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Pathways associated with EXT1 cdna cloneDiseases associated with EXT1 cdna clone
 Products by Pathway  Pathway Diagram
 Disease Pathway antibodies  Disease Pathway Diagram
 Glycosaminoglycan Biosynthesis - Heparan Sulfate / Heparin Pathway antibodies  Glycosaminoglycan Biosynthesis - Heparan Sulfate / Heparin Pathway Diagram
 Glycosaminoglycan Biosynthesis - Heparan Sulfate / Heparin Pathway antibodies  Glycosaminoglycan Biosynthesis - Heparan Sulfate / Heparin Pathway Diagram
 Glycosaminoglycan Biosynthesis, Heparan Sulfate Backbone Pathway antibodies  Glycosaminoglycan Biosynthesis, Heparan Sulfate Backbone Pathway Diagram
 Glycosaminoglycan Biosynthesis, Heparan Sulfate Backbone Pathway antibodies  Glycosaminoglycan Biosynthesis, Heparan Sulfate Backbone Pathway Diagram
 Glycosaminoglycan Metabolism Pathway antibodies  Glycosaminoglycan Metabolism Pathway Diagram
 HS-GAG Biosynthesis Pathway antibodies  HS-GAG Biosynthesis Pathway Diagram
 Heparan Sulfate/heparin (HS-GAG) Metabolism Pathway antibodies  Heparan Sulfate/heparin (HS-GAG) Metabolism Pathway Diagram
 MPS I - Hurler Syndrome Pathway antibodies  MPS I - Hurler Syndrome Pathway Diagram
 MPS II - Hunter Syndrome Pathway antibodies  MPS II - Hunter Syndrome Pathway Diagram
 Disease Name  Pubmed Publications
 Neoplasms Antibodies  >166 publications with EXT1 and Neoplasms
 EXOSTOSES, MULTIPLE, TYPE I Antibodies  >152 publications with EXT1 and EXOSTOSES, MULTIPLE, TYPE I
 Exostoses, Multiple Hereditary Antibodies  >152 publications with EXT1 and Exostoses, Multiple Hereditary
 Chondrosarcoma Antibodies  >32 publications with EXT1 and Chondrosarcoma
 Nervous System Diseases Antibodies  >8 publications with EXT1 and Nervous System Diseases
 Disease Models, Animal Antibodies  >7 publications with EXT1 and Disease Models, Animal
 Eye Diseases Antibodies  >6 publications with EXT1 and Eye Diseases
 Breast Neoplasms Antibodies  >5 publications with EXT1 and Breast Neoplasms
 Adenocarcinoma Antibodies  >3 publications with EXT1 and Adenocarcinoma
 Carcinoma, Hepatocellular Antibodies  >3 publications with EXT1 and Carcinoma, Hepatocellular
Organs/Tissues associated with EXT1 cdna clone
 Organ/Tissue Name  Pubmed Publications
 Bone Antibodies  >104 publications with EXT1 and Bone
 Blood Antibodies  >19 publications with EXT1 and Blood
 Connective Tissue Antibodies  >16 publications with EXT1 and Connective Tissue
 Embryonic Tissue Antibodies  >14 publications with EXT1 and Embryonic Tissue
 Brain Antibodies  >11 publications with EXT1 and Brain
 Nerve Antibodies  >7 publications with EXT1 and Nerve
 Kidney Antibodies  >6 publications with EXT1 and Kidney
 Vascular Antibodies  >5 publications with EXT1 and Vascular
 Heart Antibodies  >5 publications with EXT1 and Heart
 Liver Antibodies  >5 publications with EXT1 and Liver
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