Defective GYG1 is not autoglucosyolated

Stable Identifier
R-HSA-3814838
Type
Reaction [transition]
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
General
SVG |   | PPTX  | SBGN
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout

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
Participates
Catalyst Activity

glycogenin glucosyltransferase activity of mutant GYG1:GYS1-a tetramer [cytosol]

Normal reaction
Functional status

Loss of function of mutant GYG1:GYS1-a tetramer [cytosol]

Status
Disease
Name Identifier Synonyms
glycogen storage disease XV DOID:0050579 glycogen storage disease type XV
Authored
Reviewed
Created
Cite Us!