Reaction: Defective GYG1 is not autoglucosyolated
- in pathway: Glycogen storage disease type XV (GYG1)
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).
Reaction - small molecule participants:
UDP-D-glucose(2-) [cytosol]
Reactome.org reaction link: R-HSA-3814838
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Reaction input - small molecules:
UDP-D-glucose(2-)
Reaction output - small molecules:
Reactome.org link: R-HSA-3814838