Defective GYS1 does not transfer glucose to growing glycogen chains

Stable Identifier
R-HSA-3828061
Type
Reaction [transition]
Species
Homo sapiens
Compartment
cytosol
ReviewStatus
5/5
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Defective GYS1 does not transfer glucose to growing glycogen chains
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Glycogen synthase 1 (GYS1) normally catalyzes the addition of glucose residues to a growing glycogen molecule. In its absence, glycogen synthesis fails. GYS1 ("muscle") is widely expressed in the body and its deficiency is most prominently associated with exercise intolerance and cardiomyopathy (Kolberg et al. 2007; Cameron et al. 2009). Two human GYS1 mutations have been described. The one annotated here is a nonsense mutation (Kolberg et al. 2007); no glycogen is detectable in microscopic studies of skeletal and cardiac muscle from affected individuals. The other is a frame-shift mutation predicted to encode a truncated protein with an abnormal carboxy terminus (Cameron et al. 2009).
Literature References
PubMed ID Title Journal Year
19699667 Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts

Cameron, JM, Levandovskiy, V, Mackay, N, Utgikar, R, Ackerley, CA, Chiasson, D, Halliday, W, Raiman, J, Robinson, BH

Mol. Genet. Metab. 2009
17928598 Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0

Kollberg, G, Tulinius, M, Gilljam, T, Ostman-Smith, I, Forsander, G, Jotorp, P, Oldfors, A, Holme, E

N Engl J Med 2007
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Catalyst Activity

alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity of oligoGlc-GYG1:GYS1 R462* tetramer [cytosol]

Physical Entity
oligoGlc-GYG1:GYS1 R462* tetramer [cytosol] (Homo sapiens)
Activity
alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity (GO:0004373)
Normal reaction
GYS1 catalyzes the polyglucosylation of oligoGlc-GYG1 (Homo sapiens)
Functional status

Loss of function of oligoGlc-GYG1:GYS1 R462* tetramer [cytosol]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
glycogen storage disease DOID:2747 glycogenosis
Cross References
Mondo
Authored
D'Eustachio, P  (2013-07-19)
Reviewed
Jassal, B  (2015-08-17)
Created
D'Eustachio, P  (2013-07-09)
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