Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase (ALG12) (Chantret et al. 2002) normally tranfers the 8th mannose moiety to the lipid-linked oligosaccharide (LLO aka N-glycan precursor) which is required for subsequent N-glycosylation of proteins. Defects in ALG12 are associated with congenital disorder of glycosylation 1g (ALG12-CDG, CDG1g; MIM:607143), a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterised by under-glycosylated serum glycoproteins (Chantret et al. 2002, Grubenmann et al. 2002). 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.
Grubenmann, CE, Frank, CG, Kjaergaard, S, Berger, EG, Aebi, M, Hennet, T
Chantret, I, Dupré, T, Delenda, C, Bucher, S, Dancourt, J, Barnier, A, Charollais, A, Heron, D, Bader-Meunier, B, Danos, O, Seta, N, Durand, G, Oriol, R, Codogno, P, Moore, SE
© 2021 Reactome
