Anti-GBE1 Antibody Picoband® fluoro594 Vervoeging

1,4-alpha-glucan-branching enzyme, also known as brancher enzyme or glycogen-branching enzyme is an enzyme that in humans is encoded by the GBE1 gene. 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) .

GBE1

2632

Q04446

Human, Mouse, Rat

E.coli-derived human GBE1 recombinant protein (Position: H79-R515) . Human GBE1 shares 92.4% amino acid (aa) sequence identity with mouse GBE1.

Flow Cytometry

Immunogen affinity purified.

Liquid

1. Akman, H. O., Emmanuele, V., Kurt, Y. G., Kurt, B., Sheiko, T., DiMauro, S., Craigen, W. J. A novel mouse model that recapitulates adult-onset glycogenosis type 4. Hum. Molec. Genet. 24: 6801-6810, 2015. 2. Akman, H. O., Kakhlon, O., Coku, J., Peverelli, L., Rosenmann, H., Rozenstein-Tsalkovich, L., Turnbull, J., Meiner, V., Chama, L., Lerer, I., Shpitzen, S., Leitersdorf, E., Paradas, C., Wallace, M., Schiffmann, R., DiMauro, S., Lossos, A., Minassian, B. A. Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease. JAMA Neurol. 72: 441-445, 2015. Note: Erratum: JAMA Neurol. 72: 481 only, 2015. 3. Alegria, A., Martins, E., Dias, M., Cunha, A., Cardoso, M. L., Maire, I. Glycogen storage disease type IV presenting as hydrops fetalis. J. Inherit. Metab. Dis. 22: 330-332, 1999.

At -20 ̊C for one year from date of receipt. Avoid repeated freezing and thawing. Protect from light.

6

IgG

Each vial contains 50% glycerol, 0.9% NaCl, 0.2% Na2HPO4, 0.02% NaN3.