Defective ALG8 does not add glucose to the N-glycan precursor

Stable Identifier
R-HSA-4724330
Type
Reaction [transition]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane, lumenal side of endoplasmic reticulum membrane
ReviewStatus
5/5
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Defective ALG8 does not add glucose to the N-glycan precursor
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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).
Literature References
PubMed ID Title Journal Year
12480927 A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation

Chantret, I, Dancourt, J, Dupré, T, Delenda, C, Bucher, S, Vuillaumier-Barrot, S, Ogier de Baulny, H, Peletan, C, Danos, O, Seta, N, Durand, G, Oriol, R, Codogno, P, Moore, SE

J. Biol. Chem. 2003
15235028 Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)

Schollen, E, Frank, CG, Keldermans, L, Reyntjens, R, Grubenmann, CE, Clayton, PT, Winchester, BG, Smeitink, J, Wevers, RA, Aebi, M, Hennet, T, Matthijs, G

J Med Genet 2004
Participants
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Catalyst Activity

dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity of ALG8 mutants [endoplasmic reticulum membrane]

Physical Entity
ALG8 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Activity
dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity (GO:0004583)
Normal reaction
Addition of a second glucose to the N-glycan precursor by ALG8 (Homo sapiens)
Functional status

Loss of function of ALG8 mutants [endoplasmic reticulum membrane]

Normal Entity
Disease Entity
Status
Disease
Cross References
Mondo
Authored
Jassal, B  (2013-10-23)
Reviewed
Belaya, K  (2014-10-31)
Created
Jassal, B  (2013-10-23)
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