The probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,...

created [InstanceEdit:4724314] Jassal, B, 2013-10-23
dbId 4724326
displayName The probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,...
modified [InstanceEdit:5615515] Jassal, Bijay, 2014-07-24
schemaClass Summation
text The probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase (ALG8) (Chantret et al. 2003) normally adds the second glucose moiety to the lipid-linked oligosaccharide precursor (LLO aka N-glycan precursor) which is required for subsequent N-glycosylation of proteins. Defects in ALG8 can cause congenital disorder of glycosylation 1h (ALG8-CDG, CDG-1h; MIM:608104), a multisystem disorder characterised by under-glycosylated serum glycoproteins (Chantret et al. 2003, Schollen et al. 2004). ALG8 deficiency is accompanied by an accumulation of the N-glycan precursor (Glc)1 (GlcNAc)2 (Man)9 (PP-Dol)1. Mutations that can cause ALG8-CDG include T47P, G275D, V133Sfs*3 and T138Kfs*19 (Chantret et al. 2003, Schollen et al. 2004).
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