Defective ALG12 causes ALG12-CDG (CDG-1g)

Stable Identifier
R-HSA-4720489
Type
Pathway
Species
Homo sapiens
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Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase (ALG12) (Chantret et al. 2002) normally tranfers the 8th mannose moiety to the lipid-linked oligosaccharide (LLO aka N-glycan precursor) which is required for subsequent N-glycosylation of proteins. Defects in ALG12 are associated with congenital disorder of glycosylation 1g (ALG12-CDG, CDG1g; MIM:607143), a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterised by under-glycosylated serum glycoproteins (Chantret et al. 2002, Grubenmann et al. 2002). 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
12217961 ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg

Grubenmann, CE, Frank, CG, Kjaergaard, S, Berger, EG, Aebi, M, Hennet, T

Hum. Mol. Genet. 2002
11983712 Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase

Chantret, I, Dupré, T, Delenda, C, Bucher, S, Dancourt, J, Barnier, A, Charollais, A, Heron, D, Bader-Meunier, B, Danos, O, Seta, N, Durand, G, Oriol, R, Codogno, P, Moore, SE

J Biol Chem 2002
Participants
Participant Of
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type I 0050570
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