人 Gephyrin 抗体对
01AB01710
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.
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技术参数
- 靶点基因名
- GPHN
- 基因别名
- GPH; KIAA1385
- 蛋白别名
- gephyrin; Gephyrin
- UniProt
- Q9NQX3
- 物种
- Human
产品详情
- 靶点名称
- Gephyrin
- 蛋白名称
- gephyrin
- 蛋白别名
- Gephyrin [Includes: Molybdopterin adenylyltransferase; MPT adenylyltransferase; Domain G); Molybdopterin molybdenumtransferase; MPT Mo-transferase; Domain E]
- 靶点基因名
- GPHN
- 基因别名
- GPH; KIAA1385
- UniProt
- Q9NQX3
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
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.