Member database | Pfam |
Pfam type | family |
Short name | MGAT2 |
Clan | GT-A |
Author | Moxon SJ;0000-0003-4644-1816 |
Sequence Ontology | 0100021 |
Description
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 catalyses an essential step in the biosynthetic pathway leading from high mannose to complex N-linked oligosaccharides
[1]. 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
[2].
References
1.Molecular cloning and expression of cDNA encoding the rat UDP-N-acetylglucosamine:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II. D'Agostaro GA, Zingoni A, Moritz RL, Simpson RJ, Schachter H, Bendiak B. J. Biol. Chem. 270, 15211-21, (1995). View articlePMID: 7797505
2.Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications. Van Geet C, Jaeken J, Freson K, Lenaerts T, Arnout J, Vermylen J, Hoylaerts MF. J. Inherit. Metab. Dis. 24, 477-92, (2001). View articlePMID: 11596651