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Mouse Anti-GNB5 Recombinant Antibody (CBFYH-0403) (V2LY-0226-LY172)

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Datasheet
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Basic Information

Host Animal
Mouse
Clone
CBFYH-0403
Application
ELISA, WB, PLA
Immunogen
GNB5 (aa 1-90) partial recombinant protein.
Host Species
Mouse
Specificity
Human, Mouse
Antibody Isotype
IgG1, κ
Clonality
Monoclonal

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

Format
Liquid
Buffer
PBS
Preservative
None
Concentration
Batch dependent
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 freeze/thaw cycles.
More Infomation

Target

Full Name
G protein subunit beta 5
Entrez Gene ID
Human10681
Mouse14697
UniProt ID
HumanO14775
MouseP62881
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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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

Related Products

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Mouse Anti-GNB5 Recombinant Antibody (CBLG1-3197) (CAT#: V2LY-0226-LY173)

Isotype control

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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