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

Name: Mouse Anti-GYG1 Recombinant Antibody (CBLG1-2155)
SKU: CBMAB-G5821-LY
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

CBLG1-2155

Application

ELISA, IHC-P, WB

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.

More Infomation

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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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

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Isotype control

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

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