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Rabbit Anti-GNB5 Recombinant Antibody (EG1340) (CBMAB-EN1618-LY)

The product is antibody recognizes GNB5. The antibody EG1340 immunoassay techniques such as: WB: 1:500~1:1000 IHC: 1:50~1:100 ELISA: 1:40000.
See all GNB5 antibodies

Summary

Host Animal
Rabbit
Specificity
Human, Mouse, Rat
Clone
EG1340
Antibody Isotype
IgG
Application
WB: 1:500~1:1000 IHC: 1:50~1:100 ELISA: 1:40000

Basic Information

Immunogen
The antibody was produced against synthesized peptide derived from internal of human GNB5.
Specificity
Human, Mouse, Rat
Antibody Isotype
IgG
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
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
G protein subunit beta 5
Introduction
Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternatively spliced transcript variants encoding different isoforms exist.
Entrez Gene ID
Human10681
Mouse14697
Rat83579
UniProt ID
HumanO14775
MouseP62881
RatP62882
Alternative Names
GB5; IDDCA; LADCI; gbeta5
Function
Enhances GTPase-activating protein (GAP) activity of regulator of G protein signaling (RGS) proteins, hence involved in the termination of the signaling initiated by the G protein coupled receptors (GPCRs) by accelerating the GTP hydrolysis on the G-alpha subunits, thereby promoting their inactivation (Probable). Increases RGS9 GTPase-activating protein (GAP) activity, hence contributes to the deactivation of G protein signaling initiated by D2 dopamine receptors (PubMed:27677260).

May play an important role in neuronal signaling, including in the parasympathetic, but not sympathetic, control of heart rate (By similarity).
Biological Process
Dopamine receptor signaling pathway Source: UniProtKB
G protein-coupled receptor signaling pathway Source: GO_Central
Negative regulation of voltage-gated calcium channel activity Source: UniProtKB
Positive regulation of GTPase activity Source: UniProtKB
Signal transduction Source: UniProtKB
Cellular Location
Membrane
Involvement in disease
Intellectual developmental disorder with cardiac arrhythmia (IDDCA):
An autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias. Additional features include visual abnormalities, seizures, hypotonia, and gastric reflux.
Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia (LADCI):
An autosomal recessive neurodevelopmental disorder characterized by speech impairment and variable expressivity of attention deficit hyperactivity disorder. Some patients manifest developmental and motor delay, hypotonia, and sinus-node dysfunction.

Shao, Z., Masuho, I., Tumber, A., Maynes, J. T., Tavares, E., Ali, A., ... & Vincent, A. (2021). Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes. Genes, 12(9), 1352.

Shao, Z., Tumber, A., Maynes, J., Tavares, E., Kannu, P., Heon, E., & Vincent, A. (2020). Unique retinal signaling defect in GNB5-related disease. Documenta Ophthalmologica, 140, 273-277.

EM, L., De Nittis, P., CD, K., Wiszniewski, W., Moura de Souza, C. F., Lahrouchi, N., ... & Coban Akdemir, Z. H. (2019). GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. Fishing for genes, 99(3), 89.

Poke, G., King, C., Muir, A., de Valles‐Ibáñez, G., Germano, M., Moura de Souza, C. F., ... & Sadleir, L. G. (2019). The epileptology of GNB5 encephalopathy. Epilepsia, 60(11), e121-e127.

Malerba, N., Benzoni, P., Squeo, G. M., Milanesi, R., Giannetti, F., Sadleir, L. G., ... & Merla, G. (2019). Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line. Stem Cell Research, 40, 101547.

Leiz, S., Shoukier, M., Wagner, M., Ruf, B., & Baethmann, M. (2019). Heart and Brain: Homozygous Mutations of GNB5 Gene in Two Siblings with Early Onset Sinus Node Dysfunction and Severe Neurological Symptoms. Neuropediatrics, 50(S 02), GNP-PO80.

Malerba, N., Towner, S., Keating, K., Squeo, G. M., Wilson, W., & Merla, G. (2018). A NGS-Targeted Autism/ID panel reveals compound heterozygous GNB5 variants in a novel patient. Frontiers in genetics, 9, 626.

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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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