|Application ||WB, E|
|Calculated MW||33974 Da|
|Antigen Region||266-296 aa|
|Other Names||N-acetylglucosamine-1-phosphotransferase subunit gamma, GlcNAc-1-phosphotransferase subunit gamma, UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma, GNPTG, C16orf27, GNPTAG|
|Target/Specificity||This GNPTG antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 266-296 amino acids from the C-terminal region of human GNPTG.|
|Format||Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.|
|Storage||Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||GNPTG Antibody (C-term) is for research use only and 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 the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, 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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