GBE1 Polyclonal Antibody, AbBy Fluor™ 594 Conjugated

GBE1 is a 702 amino acid protein that is expressed at high levels in muscle and liver and is involved in glycogen biosynthesis. Existing as a monomer, GBE1 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 a neighboring glycogen chain and, via this catalytic activity, plays an essential role in glycogen accumulation. Defects in the gene encoding GBE1 are the cause of glycogen storage disease type 4 (GSD4) and adult polyglucosan body disease (APBD), the first of which is a metabolic disorder that is associated with the accumulation of polysaccharides and is characterized by liver disease during childhood. Unlike GSD4, APBD is a late-onset disorder that affects the central and peripheral nervous systems and is characterized by cognitive impairment, pyramidal tetraparesis and peripheral neuropathy.

1,4 alpha glucan branching enzyme; 4-alpha-glucan-branching enzyme; amylo 1,4 to 1,6 transglucosidase; amylo 1,4 to 1,6 transglycosylase; Andersen disease; Brancher enzyme; GBE 1; GBE; GBE1; gGlucan 1,4 alpha , branching enzyme 1; GLGB_HUMAN; Glucan 1,4 alpha branching enzyme; Glycogen branching enzyme; Glycogen storage disease type IV; Glycogen-branching enzyme; OTTHUMP00000213788; OTTHUMP00000213833.