External Ids for GYS2 Gene
Previous GeneCards Identifiers 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) is a Protein Coding gene. Diseases associated with GYS2 include Glycogen Storage Disease 0, Liver and Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency. Among its related pathways are Glycosaminoglycan metabolism and Development_Leptin signaling via PI3K-dependent pathway. GO annotations related to this gene include protein homodimerization activity and glycogen synthase activity, transferring glucose-1-phosphate. 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.