GPHN Antibody (PACO19701)
- SKU:
- PACO19701
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Applications:
- ELISA
- Applications:
- IHC
- Antibody Type:
- Polyclonal Antibody
- Conjugation:
- Unconjugated
Description
| Antibody Name: | GPHN Antibody (PACO19701) |
| Antibody SKU: | PACO19701 |
| Size: | 50ul |
| Host Species: | Rabbit |
| Tested Applications: | ELISA, IHC |
| Recommended Dilutions: | ELISA:1:1000-1:2000, IHC:1:25-1:100 |
| Species Reactivity: | Human, Mouse, Rat |
| Immunogen: | Synthetic peptide of human GPHN |
| Form: | Liquid |
| Storage Buffer: | -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol |
| Purification Method: | Antigen affinity purification |
| Clonality: | Polyclonal |
| Isotype: | IgG |
| Conjugate: | Non-conjugated |
 | The image on the left is immunohistochemistry of paraffin-embedded Human liver cancer tissue using PACO19701(GPHN Antibody) at dilution 1/15, on the right is treated with synthetic peptide. (Original magnification: x200). |
 | The image on the left is immunohistochemistry of paraffin-embedded Human thyroid cancer tissue using PACO19701(GPHN Antibody) at dilution 1/15, on the right is treated with synthetic peptide. (Original magnification: x200). |
| Background: | Gephyrin is a microtubule-associated protein highly expressed in brain and localized to neuronal postsynaptic membranes. Gephyrin is essential for the postsynaptic localization of the inhibitory glycine receptor and is thought to anchor the receptor to subsynaptic microtubules. The protein is expressed in most mammalian tissues with predominant expression in brain. At least five additional splice variants of Gephyrin ranging in molecular weight have been identified in rat and human brain tissue. |
| Synonyms: | gephyrin |
| UniProt Protein Function: | Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules. 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. |
| UniProt Protein Details: | |
| NCBI Summary: | 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. 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. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q03555 |
| NCBI GenInfo Identifier: | 8926308 |
| NCBI Gene ID: | 10243 |
| NCBI Accession: | AAF81785.1 |
| UniProt Secondary Accession: | Q03555,Q03555 |
| UniProt Related Accession: | Q03555,Q9NQX3 |
| Molecular Weight: | |
| NCBI Full Name: | gephyrin |
| NCBI Synonym Full Names: | gephyrin |
| NCBI Official Symbol: | GPHN |
| NCBI Official Synonym Symbols: | GPH; GEPH; HKPX1; GPHRYN; MOCODC |
| NCBI Protein Information: | gephyrin |
| UniProt Protein Name: | Gephyrin |
| UniProt Synonym Protein Names: | Molybdopterin adenylyltransferase (EC:2.7.7.751 PublicationManual assertion inferred by curator fromiRef.17"Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy."EuroEPINOMICS Dravet working groupDejanovic B., Djemie T., Gruenewald N., Suls A., Kress V., Hetsch F., Craiu D., Zemel M., Gormley P., Lal D., Myers C.T., Mefford H.C., Palotie A., Helbig I., Meier J.C., De Jonghe P., Weckhuysen S., Schwarz G.EMBO Mol. Med. 7:1580-1594(2015) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MOCODC ASP-375, CHARACTERIZATION OF MOCODC VARIANTS ASP-375 AND ALA-580, INTERACTION WITH GABRA3 AND GLRB, SUBCELLULAR LOCATION, SUBUNIT, FUNCTION, CATALYTIC ACTIVITY, PATHWAY. |
| Protein Family: | Gephyrin |
| UniProt Gene Name: | GPHN |
| UniProt Entry Name: |
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