Reaction: Defective GYS2 does not transfer glucose to growing glycogen chains
- in pathway: Glycogen storage disease type 0 (liver GYS2)
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.
Reaction - small molecule participants:
UDP-D-glucose(2-) [cytosol]
Reactome.org reaction link: R-HSA-3858506
======
Reaction input - small molecules:
UDP-D-glucose(2-)
Reaction output - small molecules:
Reactome.org link: R-HSA-3858506