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Mouse Anti-GYG1 Recombinant Antibody (CBLG1-2155) (CBMAB-G5821-LY)

This product is antibody recognizes GYG1 . The antibody CBLG1-2155 immunoassay techniques such as: ELISA, IHC-P, WB.
See all GYG1 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBLG1-2155
Antibody Isotype
IgG2a
Application
ELISA, IHC-P, WB

Basic Information

Specificity
Human
Antibody Isotype
IgG2a
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Concentration
0.5 mg/mL
Purity
> 95% Purity determined by SDS-PAGE.
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
glycogenin 1
Introduction
This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
Entrez Gene ID
2992
UniProt ID
P46976
Alternative Names
Glycogenin 1; Glycogenin Glucosyltransferase; EC 2.4.1.186; GN-1; GYG; Glycogenin-1; Glycogenin; GSD15; GN1;
Function
Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase.
Biological Process
Glycogen biosynthetic process Source: UniProtKB
Cellular Location
Cytosol; Extracellular region; Lysosomal lumen; Ficolin-1-rich granule lumen; Membrane; Secretory granule lumen
Involvement in disease
Glycogen storage disease 15 (GSD15):
A metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation.
Polyglucosan body myopathy 2 (PGBM2):
A glycogen storage disease characterized by polyglucosan accumulation in muscle, and skeletal myopathy without cardiac involvement. Most patients manifest slowly progressive, hip girdle, shoulder girdle, and/or hand and leg muscle weakness. Polyglucosan contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase.
PTM
Self-glycosylated by the transfer of glucose residues from UDP-glucose to itself, forming an alpha-1,4-glycan of around 10 residues attached to Tyr-195.
Phosphorylated.

Fastman, N. M., Liu, Y., Ramanan, V., Merritt, H., Ambing, E., DePaoli-Roach, A. A., ... & Tzitzilonis, C. (2022). The structural mechanism of human glycogen synthesis by the GYS1-GYG1 complex. Cell Reports, 40(1).

Visuttijai, K., Hedberg-Oldfors, C., Bermingham, N., Costello, D., Englund, E., Braun, O., & Oldfors, A. (2022). P. 78 Skeletal myopathy or cardiomyopathy in glycogenin-1 deficiency-Two sides of the coin. Neuromuscular Disorders, 32, S74.

Nicolau, S., Tracy, J. A., Pisapia, D. J., Tanji, K., & Milone, M. (2020). GYG1: A distal myopathy with polyglucosan bodies. JIMD reports, 55(1), 88-90.

Visuttijai, K., Hedberg-Oldfors, C., Thomsen, C., Glamuzina, E., Kornblum, C., Tasca, G., ... & Oldfors, A. (2020). Glycogenin is dispensable for glycogen synthesis in human muscle, and glycogenin deficiency causes polyglucosan storage. The Journal of Clinical Endocrinology & Metabolism, 105(2), 557-566.

Lefeuvre, C., Schaeffer, S., Carlier, R. Y., Fournier, M., Chapon, F., Biancalana, V., ... & Laforêt, P. (2020). Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy. Molecular Genetics and Metabolism Reports, 24, 100597.

Hedberg-Oldfors, C., De Ridder, W., Kalev, O., Böck, K., Visuttijai, K., Caravias, G., ... & Oldfors, A. (2019). Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency. Neuromuscular Disorders, 29(12), 951-960.

Hedberg‐Oldfors, C., Mensch, A., Visuttijai, K., Stoltenburg, G., Stoevesandt, D., Kraya, T., ... & Zierz, S. (2018). Polyglucosan myopathy and functional characterization of a novel GYG 1 mutation. Acta Neurologica Scandinavica, 137(3), 308-315.

Stojkovic, T., Chanut, A., Laforêt, P., Madelaine, A., Petit, F. M., Romero, N. B., & Malfatti, E. (2018). Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy. Muscle & Nerve.

Desikan, M., Scalco, R. S., Manole, A., Gardiner, A. R., Schapira, A. H., Lachmann, R. H., ... & Quinlivan, R. (2018). GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2). Neuromuscular Disorders, 28(4), 346-349.

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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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