InterPro domain: IPR007754

N-acetylglucosaminyltransferase II ( 2.4.1.143 ) is a Golgi resident enzyme that catalyzes an essential step in the biosynthetic pathway leading from high mannose to complex N-linked oligosaccharides [ 1 ]. Mutations in the MGAT2 gene lead to a congenital disorder of glycosylation (CDG IIa). CDG IIa patients have an increased bleeding tendency, unrelated to coagulation factors [ 2 ].

1. Molecular cloning and expression of cDNA encoding the rat UDP-N-acetylglucosamine:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II. J. Biol. Chem. 270, 15211-21
2. Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications. J. Inherit. Metab. Dis. 24, 477-92