|Other Names||Exostosin-1, Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase, Multiple exostoses protein 1, Putative tumor suppressor protein EXT1, EXT1|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||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. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).|
|Cellular Location||Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi apparatus membrane; Single-pass type II membrane protein. Note=The EXT1/EXT2 complex is localized in the Golgi apparatus|
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This gene encodes an endoplasmic reticulum-resident typeII transmembrane glycosyltransferase involved in the chainelongation step of heparan sulfate biosynthesis. Mutations in thisgene cause the type I form of multiple exostoses. [provided byRefSeq].
Zuntini, M., et al. Oncogene 29(26):3827-3834(2010)Wen, W., et al. Genet Test Mol Biomarkers 14(3):371-376(2010)Li, Y., et al. Pathology 42(1):91-93(2010)Baasanjav, S., et al. BMC Med. Genet. 11, 110 (2010) :Ludecke, H.J., et al. Genomics 40(2):351-354(1997)
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