Defective ALG6 causes CDG-1c

Stable Identifier
R-HSA-4724289
Type
Pathway
Species
Homo sapiens
Synonyms
Defective ALG9 causes ALG6-CDG
ReviewStatus
5/5
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Defective ALG6 causes CDG-1c
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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
10359825 A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic

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

Proc Natl Acad Sci U S A 1999
16007612 Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient

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

Am J Med Genet A 2005
10914684 Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

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

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

Westphal, V, Schottstädt, C, Freeze, HH, Marquardt, T

Mol. Genet. Metab. 2000
Participants
Events
Participates
as an event of
Disease
Authored
Jassal, B  (2013-10-23)
Reviewed
Belaya, K  (2014-10-31)
Created
Jassal, B  (2013-10-23)
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