|Other Names||N-acetylglucosamine-1-phosphotransferase subunit gamma, GlcNAc-1-phosphotransferase subunit gamma, UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma, GNPTG, C16orf27, GNPTAG|
|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||Non-catalytic subunit of the N-acetylglucosamine-1- phosphotransferase complex, an enzyme that catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. Binds and presents the high mannose glycans of the acceptor to the catalytic alpha and beta subunits (GNPTAB). Enhances the rate of N-acetylglucosamine- 1-phosphate transfer to the oligosaccharides of acid hydrolase acceptors.|
|Cellular Location||Secreted. Golgi apparatus|
|Tissue Location||Widely expressed.|
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Provided below are standard protocols that you may find useful for product applications.
This gene encodes the gamma sunbunit of theN-acetylglucosamine-1-phosphotransferase complex. This hexamericcomplex, composed of alpha, beta and gamma subunits, catalyzes thefirst step in synthesis of a mannose 6-phosphate lysosomalrecognition marker. This enzyme complex is necessary for targetingof lysosomal hydrolases to the lysosome. Mutations in the geneencoding the gamma subunit have been associated with mucolipidosisIIIC, also known as mucolipidosis III gamma.
Kang, C., et al. N. Engl. J. Med. 362(8):677-685(2010)Qian, Y., et al. J. Biol. Chem. 285(5):3360-3370(2010)Pohl, S., et al. Am. J. Med. Genet. A 152A (1), 124-132 (2010) :Encarnacao, M., et al. Clin. Genet. 76(1):76-84(2009)Persichetti, E., et al. Hum. Mutat. 30(6):978-984(2009)
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