Defective GYS2 does not transfer glucose to growing glycogen chains

Stable Identifier
R-HSA-3858506
Type
Reaction [transition]
Species
Homo sapiens
Compartment
cytosol
ReviewStatus
5/5
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Defective GYS2 does not transfer glucose to growing glycogen chains
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Glycogen synthase 2 (GYS2) normally catalyzes the addition of glucose residues to a growing glycogen molecule. In its absence, glycogen synthesis fails. GYS2 is expressed in the liver and its deficiency is most prominently associated with fasting hypoglycemia (Gitzelmann et al. 1996). Seven human GYS2 mutations have been described, one frameshift and six missense mutations (Orho et al. 1998), Two of the missense mutations are annotated here.
Literature References
PubMed ID Title Journal Year
9691087 Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0

Orho, M, Bosshard, NU, Buist, NR, Gitzelmann, R, Aynsley-Green, A, Blumel, P, Gannon, MC, Nuttall, FQ, Groop, LC

J Clin Invest 1998
8831078 Liver glycogen synthase deficiency: a rarely diagnosed entity

Gitzelmann, R, Spycher, MA, Feil, G, Müller, J, Seilnacht, B, Stahl, M, Bosshard, NU

Eur. J. Pediatr. 1996
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Catalyst Activity

alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity of oligoGlc-GYG2:GYS2 mutant tetramer [cytosol]

Physical Entity
oligoGlc-GYG2:GYS2 mutant tetramer [cytosol] (Homo sapiens)
Activity
alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity (GO:0004373)
Normal reaction
GYS2 catalyzes the polyglucosylation of oligoGlc-GYG2 (Homo sapiens)
Functional status

Loss of function of oligoGlc-GYG2:GYS2 mutant 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  (2013-07-10)
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