GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase...

created [InstanceEdit:4551294] Jassal, B, 2013-09-13
dbId 4551298
displayName GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase...
modified [InstanceEdit:4570574] Jassal, B, 2013-09-23
schemaClass Summation
text GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase (ALG11) transfers the fourth and fifth mannoses (Man) to the N-glycan precursor in an alpha-1,2 orientation. These additions are the last two on the cytosolic side of the ER membrane before the N-glycan is flipped to the luminal side of the membrane. Recently discovered defects in ALG11 have been linked to congential disorder of glycosylation, type 1p (ALG11-CDG, CGD1p) (Rind et al. 2010, Thiel et al. 2012). The disease is a multi-system disorder characterised by under-glycosylated serum glycoproteins. Mutations causing ALG11-CDG include E398K, L381S, L86S, Q318P and Y279S (Rind et al. 2010, Thiel et al. 2012).
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