Defective ALG11 causes CDG-1p

Stable Identifier
R-HSA-4551295
Type
Pathway
Species
Homo sapiens
Synonyms
Defective ALG1 causes ALG11-CDG
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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. Early-onset developmental retardation, dysmorphic features, hypotonia, coagulation disorders and immunodeficiency are reported features of this disorder (Rind et al. 2010, Thiel et al. 2012).

Literature References
PubMed ID Title Journal Year
20080937 A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip

Wilichowski, E, Schmeiser, V, Hocks, J, Apeshiotis, N, Thiel, C, Lehle, L, Körner, C, Lübbehusen, J, Absmanner, B, Rind, N

Hum. Mol. Genet. 2010
22213132 Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip

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

Hum. Mutat. 2012
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