External Ids for GYS2 Gene
The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content. [provided by RefSeq, Dec 2009]
GeneCards Summary for GYS2 Gene
GYS2 (Glycogen Synthase 2 (Liver)) is a Protein Coding gene. Diseases associated with GYS2 include glycogen storage disease type 0 and glycogen storage disease 0, liver. Among its related pathways are PI3K-Akt signaling pathway and Akt Signaling. GO annotations related to this gene include protein homodimerization activity and glycogen (starch) synthase activity. An important paralog of this gene is GYS1.
UniProtKB/Swiss-Prot for GYS2 Gene
Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan