Defective MGAT2 causes MGAT2-CDG (CDG-2a)

Stable Identifier
R-HSA-4793952
Type
Pathway
Species
Homo sapiens
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Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase (MGAT2) normally catalyses the transfer of a GlcNAc moiety onto the alpha-1,6 mannose of an alpha-1,4 branch of oligomannose N-glycans to form complex N-glycans (Tan et al. 1995). Defects in MGAT2 are associated with congenital disorder of glycosylation type IIa (MGAT2-CDG, CDG-2a; MIM:212066), a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterised by under-glycosylated serum glycoproteins (Tan et al. 1996, Cormier-Daire et al. 2000, Alkuraya 2010, Alazami et al. 2012). Type II CDGs refer to defects in the trimming and processing of protein-bound glycans.

Literature References
PubMed ID Title Journal Year
8808595 Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development

Tan, J, Dunn, J, Jaeken, J, Schachter, H

Am J Hum Genet 1996
22105986 Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism

Alazami, AM, Monies, D, Meyer, BF, Alzahrani, F, Hashem, M, Salih, MA, Alkuraya, FS

Am. J. Med. Genet. A 2012
20684000 Mental retardation, growth retardation, unusual nose, and open mouth: an autosomal recessive entity

Alkuraya, FS

Am. J. Med. Genet. A 2010
7635144 The human UDP-N-acetylglucosamine: alpha-6-D-mannoside-beta-1,2- N-acetylglucosaminyltransferase II gene (MGAT2). Cloning of genomic DNA, localization to chromosome 14q21, expression in insect cells and purification of the recombinant protein

Tan, J, D'Agostaro, AF, Bendiak, B, Reck, F, Sarkar, M, Squire, JA, Leong, P, Schachter, H

Eur J Biochem 1995
11228641 Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism

Cormier-Daire, V, Amiel, J, Vuillaumier-Barrot, S, Tan, J, Durand, G, Munnich, A, Le Merrer, M, Seta, N

J. Med. Genet. 2000
Participants
Participant Of
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type II 0050571
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