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GPHN Mouse mAb

WGD-Z-2612047
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Overview
别名Gephyrin [Includes: Molybdopterin adenylyltransferase; MPT adenylyltransferase; Domain G); Molybdopterin molybdenumtransferase; MPT Mo-transferase; Domain E]
基因名Gephyrin
UniProt IDQ9NQX3
反应种属Human
应用IHC-P
宿主Mouse
偶联物Unconjugated
修饰Unmodified
亚型IgG1
克隆号1G6-J9-L9
克隆性Monoclonal Antibody
分子量Calculated MW: 79 kDa
纯化方式Affinity Purified
产品形式Liquid
推荐稀释比IHC-1:200
存储缓冲液Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.09% sodium azide
保存温度Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles.
背景信息Gephyrin (Gephyrin) is a cytoplasmic, microtubule-associated scaffolding protein essential for organizing the inhibitory postsynaptic density. It functions by anchoring and clustering inhibitory glycine and GABA_A receptors at postsynaptic sites, linking them to the underlying cytoskeleton. Structurally, gephyrin is a modular protein comprising an N-terminal G domain, a C-terminal E domain that binds receptor subunits, and an intrinsically disordered linker that facilitates dynamic oligomerization and synaptic plasticity. Beyond its role in neurotransmission, gephyrin is required for molybdenum cofactor biosynthesis, thereby connecting synaptic function to cellular metabolism. Clinically, pathogenic variants in the GPHN gene are associated with epileptic encephalopathy, hyperekplexia, and intellectual disability due to impaired receptor clustering. Additionally, autoantibodies against gephyrin are identified in stiff-person spectrum disorders, highlighting its involvement in autoimmune neurological conditions.
检测原理

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