Defective GYS1 does not transfer glucose to growing glycogen chains

Stable Identifier
Reaction [transition]
Homo sapiens
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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

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

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

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

N Engl J Med 2007
Catalyst Activity

glycogen (starch) synthase activity of oligoGlc-GYG1:GYS1 R462* tetramer [cytosol]

Normal reaction
Functional status

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

Name Identifier Synonyms
glycogen storage disease DOID:2747 glycogenosis
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