Defective ALG8 causes ALG8-CDG (CDG-1h)

Stable Identifier
R-HSA-4724325
Type
Pathway
Species
Homo sapiens
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The probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase (ALG8) (Stanchi et al. 2001, 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. 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.

Literature References
PubMed ID Title Journal Year
11124703 Characterization of 16 novel human genes showing high similarity to yeast sequences

Stanchi, F, Bertocco, E, Toppo, S, Dioguardi, R, Simionati, B, Cannata, N, Zimbello, R, Lanfranchi, G, Valle, G

Yeast 2001
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
Participant Of
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type I 0050570
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