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Mouse Anti-GBE1 Recombinant Antibody (4D9) (CBMAB-G2394-LY)

This product is antibody recognizes GBE1. The antibody 4D9 immunoassay techniques such as: FC.
See all GBE1 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
4D9
Antibody Isotype
IgG2a
Application
FC

Basic Information

Immunogen
Full length human recombinant protein of human GBE1 (NP_000149) produced in HEK293T cell
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
Buffer
50% glycerol
Preservative
0.02% NaN3
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
1,4-Alpha-Glucan Branching Enzyme 1
Introduction
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). [provided by RefSeq, Jul 2008]
Entrez Gene ID
2632
UniProt ID
Q04446
Alternative Names
1;4-Alpha-Glucan Branching Enzyme 1; Glucan (1;4-Alpha-); Branching Enzyme 1; Glycogen Branching Enzyme; Brancher Enzyme; EC 2.4.1.18; Amylo-(1;4 To 1;6) Transglucosidase; Amylo-(1;4 To 1;6) Transglycosylase; 1;4-Alpha-Glucan-Branching Enzyme;
Function
Required for normal glycogen accumulation (PubMed:8463281, PubMed:26199317, PubMed:8613547).

The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable).
Biological Process
Carbohydrate metabolic process Source: GO_Central
Generation of precursor metabolites and energy Source: ProtInc
Glycogen biosynthetic process Source: UniProtKB
Glycogen metabolic process Source: ProtInc
Negative regulation of neuron apoptotic process Source: Ensembl
Cellular Location
Cytosol; Extracellular exosome; Cytoplasm
Involvement in disease
Glycogen storage disease 4 (GSD4):
A metabolic disorder characterized by the accumulation of an amylopectin-like polysaccharide. The typical clinical manifestation is liver disease of childhood, progressing to lethal hepatic cirrhosis. Most children with this condition die before two years of age. However, the liver disease is not always progressive. No treatment apart from liver transplantation has been found to prevent progression of the disease. There is also a neuromuscular form of glycogen storage disease type 4 that varies in onset (perinatal, congenital, juvenile, or adult) and severity. Neuromuscular perinatal glycogen storage disease type 4 is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.
Polyglucosan body neuropathy, adult form (APBN):
A late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBN is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes.
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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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