Structural highlights
Disease
PMGT2_HUMAN Walker-Warburg syndrome. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry.
Function
PMGT2_HUMAN O-linked mannose beta-1,4-N-acetylglucosaminyltransferase that transfers UDP-N-acetyl-D-glucosamine to the 4-position of the mannose to generate N-acetyl-D-glucosamine-beta-1,4-O-D-mannosylprotein. Involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.[1] [2]
References
- ↑ Yoshida-Moriguchi T, Willer T, Anderson ME, Venzke D, Whyte T, Muntoni F, Lee H, Nelson SF, Yu L, Campbell KP. SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. Science. 2013 Aug 23;341(6148):896-9. PMID:23929950 doi:10.1126/science.1239951
- ↑ Endo Y, Dong M, Noguchi S, Ogawa M, Hayashi YK, Kuru S, Sugiyama K, Nagai S, Ozasa S, Nonaka I, Nishino I. Milder forms of muscular dystrophy associated with POMGNT2 mutations. Neurol Genet. 2015 Dec 10;1(4):e33. PMID:27066570 doi:10.1212/NXG.0000000000000033
