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  Domain Name: MGAT2
N-acetylglucosaminyltransferase II (MGAT2). UDP-N-acetyl-D-glucosamine:alpha-6-D-mannoside beta-1,2-N- acetylglucosaminyltransferase II (EC 2.4.1.143) (GnT II/MGAT2) is a Golgi resident enzyme that catalyzes an essential step in the biosynthetic pathway leading from high mannose to complex N-linked oligosaccharides. Mutations in the MGAT2 gene lead to congenital disorder of glycosylation (CDG IIa). CDG IIa patients have an increased bleeding tendency, unrelated to coagulation factors.
No pairwise interactions found for the domain MGAT2

Total Mutations Found: 5
Total Disease Mutations Found: 5
This domain occurred 1 times on human genes (2 proteins).



  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA


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   Protein ID            Protein Position

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No Conserved Features/Sites Found for MGAT2















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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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