Defective MPDU1 causes MPDU1-CDG (CDG-1f)

Stable Identifier
R-HSA-4687000
Type
Pathway
Species
Homo sapiens
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Mannose-P-dolichol utilisation defect 1 protein (MPDU1) is required for the efficient utilisation of the mannose donor dolichyl-phospho-mannose (DOLPman) in the synthesis of both lipid-linked oligosaccharides (LLOs) and glycosylphosphatidylinositols. Defects in MPDU1 can cause congenital disorder of glycosylation 1f (MPDU1-CDG, CDG-1f; MIM:609180), a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterised by under-glycosylated serum glycoproteins. CDG type 1 diseases result in a wide phenotypic spectrum, such as poor neurological development, psychomotor retardation, dysmorphic features, hypotonia, coagulation abnormalities and immunodeficiency. In this condition, DOLPman is no longer utilised in transferase reactions extending LLOs, even as substrate levels and transferase enzyme activities appear normal (Anand et al. 2001, Schenk et al. 2001).

Literature References
PubMed ID Title Journal Year
11179430 Requirement of the Lec35 gene for all known classes of monosaccharide-P-dolichol-dependent glycosyltransferase reactions in mammals

Anand, M, Rush, JS, Ray, S, Doucey, MA, Weik, J, Ware, FE, Hofsteenge, J, Waechter, CJ, Lehrman, MA

Mol. Biol. Cell 2001
11733564 MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

Schenk, B, Imbach, T, Frank, CG, Grubenmann, CE, Raymond, GV, Hurvitz, H, Korn-Lubetzki, I, Revel-Vik, S, Raas-Rotschild, A, Luder, AS, Jaeken, J, Berger, EG, Matthijs, G, Hennet, T, Aebi, M

J. Clin. Invest. 2001
Participants
Participant Of
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type I 0050570
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