Defective ALG1 causes ALG1-CDG (CDG-1k)

Stable Identifier
Homo sapiens
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Chitobiosyldiphosphodolichol beta-mannosyltransferase (ALG1) 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 ALG1 can cause congenital disorder of glycosylation 1k (ALG1-CDG, previously known as CDG1k; MIM:608540), a multisystem disorder characterised by under-glycosylated serum glycoproteins. 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. Compared to other CDGs, ALG1-CDG has a very severe phenotype, which can result in an early death (Schwarz et al. 2004, Kranz et al. 2004, Dupre et al. 2010).

Literature References
PubMed ID Title Journal Year
20679665 Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations

Dupré, T, Vuillaumier-Barrot, S, Chantret, I, Yayé, HS, Le Bizec, C, Afenjar, A, Altuzarra, C, Barnérias, C, Burglen, L, de Lonlay, P, Feillet, F, Napuri, S, Seta, N, Moore, SE

J. Med. Genet. 2010
14973782 Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I

Kranz, C, Denecke, J, Lehle, L, Sohlbach, K, Jeske, S, Meinhardt, F, Rossi, R, Gudowius, S, Marquardt, T

Am J Hum Genet 2004
14973778 Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik

Schwarz, M, Thiel, C, Lübbehusen, J, Dorland, B, de Koning, T, von Figura, K, Lehle, L, Körner, C

Am J Hum Genet 2004
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