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 Type 0. Among its related pathways are Glycogen Metabolism and Activation of cAMP-Dependent PKA. 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.