Defective GYG1 is not autoglucosyolated

Stable Identifier
R-HSA-3814838
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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Muscle glycogen synthesis is normally initiated by the autoglycosylation of glycogenin 1 (GYG1) to form oligo (1,4)-alpha-D-glucosyl GYG1. A missense mutation of GYG1 yields a protein that cannot undergo glucosylation, leading to failure of glycogen synthesis, associated with muscle weakness and other abnormalities (Moslemi et al. 2010).

Literature References
PubMed ID Title Journal Year
20357282 Glycogenin-1 deficiency and inactivated priming of glycogen synthesis

Moslemi, AR, Lindberg, C, Nilsson, J, Tajsharghi, H, Andersson, B, Oldfors, A

N. Engl. J. Med. 2010
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
glycogenin glucosyltransferase activity of mutant GYG1:GYS1-a tetramer [cytosol]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
glycogen storage disease XV 0050579 glycogen storage disease type XV
Authored
Reviewed
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