Defective DPM2 causes DPM2-CDG (CDG-1u)

Stable Identifier
R-HSA-4719377
Type
Pathway
Species
Homo sapiens
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Dolichyl-phosphate mannosyltransferase (DPM), a heterotrimeric protein embedded in the endoplasmic reticulum membrane, mediates the transfer of mannose (from cytosolic GDP-mannose) to dolichyl phosphate (DOLP) to form dolichyl-phosphate-mannose (DOLPman). The first subunit of the heterotrimer (DPM1) appears to be the actual catalyst, and the other two subunits (DPM2 and 3) appear to stabilise it (Maeda et al. 2000). Defects in DPM2 can cause congenital disorder of glycosylation 1u (DPM2-CDG, CDG1u; MIM:615042), a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterised by under-glycosylated serum glycoproteins (Barone et al. 2012). 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
23109149 DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy

Barone, R, Aiello, C, Race, V, Morava, E, Foulquier, F, Riemersma, M, Passarelli, C, Concolino, D, Carella, M, Santorelli, F, Vleugels, W, Mercuri, E, Garozzo, D, Sturiale, L, Messina, S, Jaeken, J, Fiumara, A, Wevers, RA, Bertini, E, Matthijs, G, Lefeber, DJ

Ann. Neurol. 2012
10835346 Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3

Maeda, Y, Tanaka, S, Hino, J, Kangawa, K, Kinoshita, T

EMBO J 2000
Participants
Participant Of
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type I 0050570
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