Glycogen storage disease type XV (GYG1)

Stable Identifier
R-HSA-3814836
Type
Pathway
Species
Homo sapiens
Synonyms
GSD XV
ReviewStatus
5/5
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Glycogen storage disease type XV (GYG1)
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Glycogen synthesis is normally initiated by the autoglycosylation of glycogenin (GYG) to form oligo (1,4)-alpha-D-glucosyl GYG. 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

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

N. Engl. J. Med. 2010
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
glycogen storage disease XV DOID:0050579 glycogen storage disease type XV
Authored
D'Eustachio, P  (2013-07-19)
Reviewed
Jassal, B  (2015-08-17)
Created
D'Eustachio, P  (2013-07-08)
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