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EXT1 cdna clone

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Catalog # MBS1267455
Unit / Price
  0.01 mg Plasmid + 0.2 mL Glycerol-Stock  /  $165 +1 FREE 8GB USB
EXT1 cdna clone
Product Name

EXT1, cDNA Clone

Popular Item
Full Product Name

EXT1 cDNA Clone

Product Gene Name
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
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
Vector
pENTR223.1
Clone Sequence Report
Provided with product shipment
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.
NCBI/Uniprot data below describe general gene information for EXT1. It may not necessarily be applicable to this product.
NCBI GI #
NCBI GeneID
NCBI Accession #
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
86,255 Da
NCBI Official Full Name
Homo sapiens exostoses (multiple) 1, mRNA
NCBI Official Synonym Full Names
exostosin glycosyltransferase 1
NCBI Official Symbol
NCBI Official Synonym Symbols
EXT; LGS; TTV; LGCR; TRPS2
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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
UniProt Gene Name
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: EC 2.4.1.225; EC 2.4.1.224; 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
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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