人 RPH3A 抗体对
01AB00384
Rabphilin 3A (RPH3A) is a synaptic protein primarily known for its role as an effector of the small GTPase Rab3A, which is crucial for synaptic vesicle trafficking. RPH3A interacts with the C-terminal domain of the GluN2A subunit of NMDA receptors (NMDARs), facilitating their synaptic retention and influencing dendritic spine morphology and density. This interaction is essential for processes like long-term potentiation (LTP), which underpins learning and memory functions in the hippocampus. Mutations in RPH3A have been linked to neurodevelopmental disorders characterized by variable clinical presentations, including intellectual disabilities and epilepsy, underscoring its importance in excitatory synaptic function. The protein features two C2 domains that bind calcium and inositol trisphosphate, enabling it to regulate synaptic plasticity through calcium-dependent mechanisms. Disruption of RPH3A function can lead to decreased NMDAR stability at the synapse, contributing to synaptic dysfunction and associated neurological conditions.
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技术参数
- 靶点基因名
- RPH3A
- 基因别名
- KIAA0985
- 蛋白别名
- rabphilin 3A; RPH3A
- UniProt
- Q9Y2J0
- 物种
- Human
产品详情
- 靶点名称
- RPH3A
- 蛋白名称
- rabphilin 3A
- 蛋白别名
- Rabphilin-3A; Exophilin-1
- 靶点基因名
- RPH3A
- 基因别名
- KIAA0985
- UniProt
- Q9Y2J0
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Rabphilin 3A (RPH3A) is a synaptic protein primarily known for its role as an effector of the small GTPase Rab3A, which is crucial for synaptic vesicle trafficking. RPH3A interacts with the C-terminal domain of the GluN2A subunit of NMDA receptors (NMDARs), facilitating their synaptic retention and influencing dendritic spine morphology and density. This interaction is essential for processes like long-term potentiation (LTP), which underpins learning and memory functions in the hippocampus. Mutations in RPH3A have been linked to neurodevelopmental disorders characterized by variable clinical presentations, including intellectual disabilities and epilepsy, underscoring its importance in excitatory synaptic function. The protein features two C2 domains that bind calcium and inositol trisphosphate, enabling it to regulate synaptic plasticity through calcium-dependent mechanisms. Disruption of RPH3A function can lead to decreased NMDAR stability at the synapse, contributing to synaptic dysfunction and associated neurological conditions.