Bioss Inc.'s GBE1 Polyclonal Antibody is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: EIA, Immunoassay, ELISA, Immunocytochemistry, Immunofluorescence, Immunohistochemistry, Immunohistochemistry - fixed, Immunohistochemistry - frozen, and Western Blot. The GBE1 Polyclonal Antibody was generated using Gbe1 as the antigen and it reacts with Homo Sapiens, and Human.
Description
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