Defective ALG2 causes ALG2-CDG (CDG-1i)

Stable Identifier
R-HSA-4549349
Type
Pathway
Species
Homo sapiens
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Alpha 1,3/1,6 mannosyltransferase ALG2 (ALG2) is a bifunctional mannosyltransferase normally tranfers a mannose moiety to the lipid linked oligosaccharide (LLO aka N glycan precursor) which is required for subsequent N glycosylation of proteins. Defects in ALG2 can cause congenital disorder of glycosylation 1i (ALG2-CDG, previously known as CDG1i; MIM:607906), a multisystem disorder characterised by under glycosylated serum glycoproteins. CDG type 1 diseases result in a wide phenotypic spectrum, from poor neurological development, psychomotor retardation and dysmorphic features to hypotonia, coagulation abnormalities and immunodeficiency (Thiel et al. 2003). Defect in ALG2 can also cause congenital myasthenic syndrome (ALG2-CMS), which is due to a defect in neuromuscular signal transmission (Cossins et al. 2013). The most commonly affected muscles include proximal limb muscles. Mutations causing ALG2-CMS include p.V68G and p.72_75delinsSPR (Cossins et al. 2013).

Literature References
PubMed ID Title Journal Year
23404334 Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

Cossins, J, Belaya, K, Hicks, D, Salih, MA, Finlayson, S, Carboni, N, Liu, WW, Maxwell, S, Zoltowska, K, Farsani, GT, Laval, S, Seidhamed, MZ

Brain 2013
12684507 A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis

Thiel, C, Schwarz, M, Peng, J, Grzmil, M, Hasilik, M, Braulke, T, Kohlsch├╝tter, A, von Figura, K, Lehle, L, K├Ârner, C

J Biol Chem 2003
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