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).
Wilichowski, E, Schmeiser, V, Hocks, J, Apeshiotis, N, Thiel, C, Lehle, L, Körner, C, Lübbehusen, J, Absmanner, B, Rind, N
Thiel, C, Thiels, C, Conway, RL, Hoffmann, GF, Apeshiotis, N, Popovici, D, Adamski, CR, Körner, C, Matthijs, G, Butler, E, Lambert, M, Scanlon, R, Hanson, K, Rind, N
alpha-1,2-mannosyltransferase activity of ALG11 mutants [endoplasmic reticulum membrane]
Loss of function of ALG11 mutants [endoplasmic reticulum membrane]
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