Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase (ALG6) normally adds the first glucose moiety to the lipid-linked oligosaccharide precursor (LLO aka N-glycan precursor) which is required for subsequent N-glycosylation of proteins (Imbach et al. 1999). Defects in ALG6 can cause congenital disorder of glycosylation 1c (ALG6-CDG, CDG-1c; MIM:603147), a multisystem disorder characterised by under-glycosylated serum glycoproteins (Imbach et al. 1999, Imbach et al. 2000, Westphal et al. 2000, Sun et al. 2005). ALG6 deficiency is accompanied by an accumulation of the N-glycan precursor (GlcNAc)2 (Man)9 (PP-Dol)1 and is the second most common CDG disease subtype after PMM2-CDG (CDG-1a) (Imbach et al. 1999). CDG type 1 diseases result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency.
Hennet, T, Wevers, RA, Burda, P, Berger, EG, Imbach, T, Aebi, M, Kuhnert, P
Thomas, JA, Freeze, HH, Eklund, EA, Sun, L, Van Hove, JL
Schenk, B, Berger, EG, Schollen, E, Grünewald, S, Hennet, T, Imbach, T, de Klerk, JB, Burda, P, Aebi, M, Matthijs, G, Wevers, RA, Jaeken, J
Westphal, V, Schottstädt, C, Freeze, HH, Marquardt, T
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