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Rabbit Anti-GPHN Recombinant Antibody (BA0111) (CBMAB-0352CQ)

This product is a rabbit antibody that recognizes GPHN. The antibody BA0111 can be used for immunoassay techniques such as: IF, IHC-P, WB.
See all GPHN antibodies

Summary

Host Animal
Rabbit
Specificity
Human, Mouse, Rat
Clone
BA0111
Antibody Isotype
IgG
Application
IF, IHC-P, WB

Basic Information

Immunogen
Human Gephyrin aa 1-100
Specificity
Human, Mouse, Rat
Antibody Isotype
IgG
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!]

Purity
>95% as determined by analysis 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.

Target

Full Name
gephyrin
Introduction
The GPHN gene encodes gephyrin, an organizational protein that clusters and localizes the inhibitory glycine and GABA receptors to the microtubular matrix of the neuronal postsynaptic membrane. This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. To integrate signals from the many synaptic connections on its cell body and dendrites rapidly and specifically, a neuron anchors high concentrations of receptors at postsynaptic sites, matching the correct receptor with the neurotransmitter released from the presynaptic terminal. Receptor-associated proteins are thought to be involved in forming these postsynaptic specializations, possibly by linking the receptor to the postsynaptic cytoskeleton (Kirsch et al., 1993). Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known.
Entrez Gene ID
Human10243
Mouse268566
Rat64845
UniProt ID
HumanQ9NQX3
MouseQ8BUV3
RatQ03555
Alternative Names
Gephyrin; GPH; KIAA1385; GPHRYN; MOCODC; HKPX1; GEPH
Function
Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity).

Acts as a major instructive molecule at inhibitory synapses, where it also clusters GABA type A receptors (PubMed:25025157, PubMed:26613940).

Has also a catalytic activity and catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released.
Biological Process
Establishment of synaptic specificity at neuromuscular junction Source: GO_Central
Gamma-aminobutyric acid receptor clustering Source: UniProtKB
Glycine receptor clustering Source: GO_Central
Molybdenum incorporation into molybdenum-molybdopterin complex Source: GO_Central
Molybdopterin cofactor biosynthetic process Source: UniProtKB
Mo-molybdopterin cofactor biosynthetic process Source: GO_Central
Postsynaptic neurotransmitter receptor diffusion trapping Source: GO_Central
Response to metal ion Source: CAFA
Cellular Location
Postsynaptic cell membrane; Cell membrane; Cytosol; Cytoskeleton; Dendrite; Postsynaptic density. Cytoplasmic face of glycinergic postsynaptic membranes (By similarity). Forms clusters at synapses (PubMed:25025157).
Involvement in disease
Molybdenum cofactor deficiency, complementation group C (MOCODC):
A form of molybdenum cofactor deficiency, an autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients.
PTM
Palmitoylated (PubMed:25025157). Palmitoylation is stimulated by GABA type A receptors activity (By similarity). Palmitoylation by ZDHHC12 regulates clustering at synapses (PubMed:25025157).

Liebsch, F., Eggersmann, F. R., Merkler, Y., Kloppenburg, P., & Schwarz, G. (2023). Automated Image Analysis Reveals Different Localization of Synaptic Gephyrin C4 Splice Variants. eneuro, 10(1).

Dos Reis, R., Kornobis, E., Pereira, A., Tores, F., Carrasco, J., Gautier, C., ... & Allemand, E. (2022). Complex regulation of Gephyrin splicing is a determinant of inhibitory postsynaptic diversity. Nature Communications, 13(1), 3507.

Macha, A., Liebsch, F., Fricke, S., Hetsch, F., Neuser, F., Johannes, L., ... & Schwarz, G. (2022). Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy. Human Molecular Genetics, 31(6), 901-913.

Hoffmann, C., & Milovanovic, D. (2021). Gephyrin: A scaffold that builds a phase at the inhibitory postsynapses. Cell research, 31(3), 245-246.

El-Tallawy, H. N., Abuhamdah, S., Nassar, A. Y., Farghaly, W. M., Saleem, T. H., Atta, S. A., ... & Hassan, M. H. (2021). Gephyrin and CYP2C9 Genetic Polymorphisms in Patients with Pharmacoresistant Epilepsy. Pharmacogenomics and Personalized Medicine, 1133-1140.

Bai, G., Wang, Y., & Zhang, M. (2021). Gephyrin-mediated formation of inhibitory postsynaptic density sheet via phase separation. Cell research, 31(3), 312-325.

Pizzarelli, R., Griguoli, M., Zacchi, P., Petrini, E. M., Barberis, A., Cattaneo, A., & Cherubini, E. (2020). Tuning GABAergic inhibition: gephyrin molecular organization and functions. Neuroscience, 439, 125-136.

Zhang, X., Cheng, D., Liu, Y., Wu, Y., & He, Z. (2019). Gephyrin suppresses lung squamous cell carcinoma development by reducing mTOR pathway activation. Cancer Management and Research, 11, 5333.

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

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