Reactome: A Curated Pathway Database
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Glycogen storage disease type 0 (liver GYS2)

Stable Identifier
R-HSA-3858516
Type
Pathway
Species
Homo sapiens
Synonyms
GSD 0
Locations in the PathwayBrowser
Summation

Glycogen synthase 2 (GYS2 "liver") normally catalyzes the addition of glucose residues to a growing glycogen molecule. In its absence, glycogen synthesis fails. Expression of GYS2 is confined to the liver and its deficiency is most prominently associated with fasting hypoglycemia (Gitzelmann et al. 1996; Orho et al. 1998).

Literature References
Participants
Participant Of
Disease
Diseases
Name Identifier Synonyms
glycogen storage disease 2747 glycogenosis