GBE1 Antibody – Mouse Monoclonal

The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008]

GBE1: a monomeric enzyme that functions in glycogen symthesis by catalyzing the formation of alpha 1,6- glucosidic linkages.Required for sufficient glycogen accumulation. The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule and, consequently, in reducing the osmotic pressure within cells. It is most highly expressed in liver and muscle. Deficiency can result in glycogen storage disease IV (Andersen's disease).

Protein type: EC 2.4.1.18; Transferase; Carbohydrate Metabolism - starch and sucrose

Chromosomal Location of Human Ortholog: 3p12.3

Cellular Component: cytosol

Molecular Function: cation binding; 1,4-alpha-glucan branching enzyme activity; hydrolase activity, hydrolyzing O-glycosyl compounds

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

Disease: Polyglucosan Body Disease, Adult Form; Glycogen Storage Disease Iv