Glycogen storage disease type XV (GYG1)

Stable Identifier
R-HSA-3814836
Type
Pathway
Species
Homo sapiens
Synonyms
GSD XV
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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

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

N. Engl. J. Med. 2010
Participants
Participant Of
Disease
Name Identifier Synonyms
glycogen storage disease XV 0050579 glycogen storage disease type XV
Cross References
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