Defective GYG1 is not autoglucosyolated

Stable Identifier
R-HSA-3814838
Type
Reaction [transition]
Species
Homo sapiens
Compartment
cytosol
ReviewStatus
5/5
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Defective GYG1 is not autoglucosyolated
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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

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

N. Engl. J. Med. 2010
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Catalyst Activity

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

Physical Entity
mutant GYG1:GYS1-a tetramer [cytosol] (Homo sapiens)
Activity
glycogenin glucosyltransferase activity (GO:0008466)
Normal reaction
Autoglucosylation of GYG1 complexed with GYS1-a (Homo sapiens)
Functional status

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

Normal Entity
Disease Entity
Status
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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