Defective ALG6 causes ALG6-CDG (CDG-1c)

Stable Identifier
R-HSA-4724289
Type
Pathway
Species
Homo sapiens
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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.

Literature References
PubMed ID Title Journal Year
16007612 Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient

Sun, L, Eklund, EA, Van Hove, JL, Freeze, HH, Thomas, JA

Am J Med Genet A 2005
10359825 A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic

Imbach, T, Burda, P, Kuhnert, P, Wevers, RA, Aebi, M, Berger, EG, Hennet, T

Proc Natl Acad Sci U S A 1999
10914684 Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

Imbach, T, Gr├╝newald, S, Schenk, B, Burda, P, Schollen, E, Wevers, RA, Jaeken, J, de Klerk, JB, Berger, EG, Matthijs, G, Aebi, M, Hennet, T

Hum. Genet. 2000
10924277 Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic

Westphal, V, Schottst├Ądt, C, Marquardt, T, Freeze, HH

Mol. Genet. Metab. 2000
Participants
Participant Of
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type I 0050570
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