Glycogen Synthase (GYS2) Antibody – Rabbit Polyclonal

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]

GYS2: Transfers the glycosyl residue from UDP-Glc to the non- reducing end of alpha-1,4-glucan. Defects in GYS2 are the cause of glycogen storage disease type 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. Belongs to the glycosyltransferase 3 family.

Protein type: EC 2.4.1.11; Transferase; Cytoskeletal; Carbohydrate Metabolism - starch and sucrose

Chromosomal Location of Human Ortholog: 12p12.2

Cellular Component: cortical actin cytoskeleton; cytoskeleton; ectoplasm; cytoplasm; cell cortex; cytosol

Molecular Function: protein homodimerization activity; glycogen (starch) synthase activity

Biological Process: generation of precursor metabolites and energy; glycogen biosynthetic process; carbohydrate metabolic process; response to glucose stimulus; glucose metabolic process; pathogenesis

Disease: Glycogen Storage Disease 0, Liver