Defective PGM1 does not isomerise G6P to G1P

Stable Identifier
R-HSA-5609939
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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Cytosolic phosphoglucomutase (PGM) catalyses the reversible conversion of glucose 6-phosphate (G6P) to glucose 1-phosphate (G1P), both precursor intermediates in glucose metabolism and protein glycosylation processes. Defects in PGM1 can cause Congenital disorder of glycosylation 1t (CDG1t, now known as PGM1-CDG; MIM:614921), a broad spectrum disorder characterised by under-glycosylated serum glycoproteins (Timal et al. 2012, Tegtmeyer et al. 2014). CDGs result in a wide variety of clinical features such as defects in nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. Mutations that cause almost complete loss of PGM1 activity include T115A, N38Y, D62H, D263Y and R221Vfs*13 (Tegtmeyer et al. 2014).

Literature References
PubMed ID Title Journal Year
24499211 Multiple phenotypes in phosphoglucomutase 1 deficiency

Tegtmeyer, LC, Rust, S, van Scherpenzeel, M, Ng, BG, Losfeld, ME, Timal, S, Raymond, K, He, P, Ichikawa, M, Veltman, J, Huijben, K, Shin, YS, Sharma, V, Adamowicz, M, Lammens, M, Reunert, J, Witten, A, Schrapers, E, Matthijs, G, Jaeken, J, Rymen, D, Stojkovic, T, Laforêt, P, Petit, F, Aumaître, O, Czarnowska, E, Piraud, M, Podskarbi, T, Stanley, CA, Matalon, R, Burda, P, Seyyedi, S, Debus, V, Socha, P, Sykut-Cegielska, J, van Spronsen, F, De Meirleir, L, Vajro, P, DeClue, T, Ficicioglu, C, Wada, Y, Wevers, RA, Vanderschaeghe, D, Callewaert, N, Fingerhut, R, Van Schaftingen, E, Freeze, HH, Morava, E, Lefeber, DJ, Marquardt, T

N. Engl. J. Med. 2014
22492991 Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Timal, S, Hoischen, A, Lehle, L, Adamowicz, M, Huijben, K, Sykut-Cegielska, J, Paprocka, J, Jamroz, E, van Spronsen, FJ, Körner, C, Gilissen, C, Rodenburg, RJ, Eidhof, I, Van den Heuvel, L, Thiel, C, Wevers, RA, Morava, E, Veltman, J, Lefeber, DJ

Hum. Mol. Genet. 2012
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
phosphoglucomutase activity of PGM1 mutants:Mg2+ [cytosol]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
congenital disorder of glycosylation 5212 carbohydrate-deficient glycoprotein syndrome
Authored
Reviewed
Created