Defective DPM1 causes DPM1-CDG (CDG-1e)

Stable Identifier
R-HSA-4717374
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 DPM1 can cause congenital disorder of glycosylation 1e (DPM1-CDG, CDG-1e; MIM:608799), a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterised by under-glycosylated serum glycoproteins (Kim et al. 2000, Imbach et al. 2000, Garcia-Silva et al. 2004).

Literature References
PubMed ID Title Journal Year
10642602 Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

Imbach, T, Schenk, B, Schollen, E, Burda, P, Stutz, A, Grunewald, S, Bailie, NM, King, MD, Jaeken, J, Matthijs, G, Berger, EG, Aebi, M, Hennet, T

J. Clin. Invest. 2000
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
10642597 Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

Kim, S, Westphal, V, Srikrishna, G, Mehta, DP, Peterson, S, Filiano, J, Karnes, PS, Patterson, MC, Freeze, HH

J. Clin. Invest. 2000
15669674 Congenital disorder of glycosylation (CDG) type Ie. A new patient

García-Silva, MT, Matthijs, G, Schollen, E, Cabrera, JC, Sanchez del Pozo, J, Martí Herreros, M, Simón, R, Maties, M, Martín Hernández, E, Hennet, T, Briones, P

J. Inherit. Metab. Dis. 2004
Participants
Participant Of
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type I 0050570
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