GYS2

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.

Full Name

glycogen synthase 2

Function

Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan.

Biological Process

Generation of precursor metabolites and energy Source: ProtInc
Glycogen biosynthetic process Source: UniProtKB
Response to glucose Source: UniProtKB

Cellular Location

Cortical actin cytoskeleton; Cytoskeleton; Cytosol; Cell cortex; Cytoplasm; Ectoplasm

Involvement in disease

Glycogen storage disease 0 (GSD0):
A metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood, high blood ketones and low alanine and lactate concentrations. Although feeding relieves symptoms, it often results in postprandial hyperglycemia and hyperlactatemia.

PTM

Primed phosphorylation at Ser-657 (site 5) by CSNK2A1 and CSNK2A2 is required for inhibitory phosphorylation at Ser-641 (site 3a), Ser-645 (site 3b), Ser-649 (site 3c) and Ser-653 (site 4) by GSK3A an GSK3B. Dephosphorylation at Ser-641 and Ser-645 by PP1 activates the enzyme (By similarity). Phosphorylation at Ser-8 is not required for interaction with GYG1 (By similarity). Interaction with GYG1 does not regulate the phosphorylation at Ser-8 and Ser-641 (By similarity).