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Anti-GBE1 Antibody Picoband® Fluoro647 Conjugated

Product Specifications

Background

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) .

Gene Name

GBE1

Gene ID

2632

UniProt

Q04446

Host

Rabbit

Reactivity

Human, Mouse, Rat

Immunogen

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

Clonality

Polyclonal

Applications

Flow Cytometry

Purification

Immunogen affinity purified.

Form

Liquid

References & Citations

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.

Storage Conditions

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

Applications Notes

6

Isotype

IgG

Contents

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

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