Defective GYS2 does not transfer glucose to growing glycogen chains

Stable Identifier
R-HSA-3858506
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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
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
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
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
glycogen (starch) synthase activity of oligoGlc-GYG2:GYS2 mutant tetramer [cytosol]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
glycogen storage disease 2747 glycogenosis
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