人 SYT1 抗体对
01AB00119
SYT1 (Synaptotagmin 1) is a gene that encodes a protein involved in the regulation of synaptic vesicle exocytosis, which is the process of releasing neurotransmitters from neurons into the synaptic cleft. The SYT1 protein acts as a calcium sensor, triggering the fusion of synaptic vesicles with the presynaptic membrane when calcium levels rise, thereby enabling the release of neurotransmitters. Mutations or alterations in the SYT1 gene have been associated with various neurological and neurodevelopmental disorders. Studies have shown that disruptions in SYT1 function can lead to impaired neurotransmitter release, synaptic dysfunction, and neurological symptoms. For example, certain SYT1 mutations have been linked to forms of epilepsy, intellectual disability, and autism spectrum disorder. The specific mechanisms by which SYT1 dysfunction contributes to these diseases are still being investigated, but the role of SYT1 in regulating synaptic vesicle exocytosis and neurotransmitter release appears to be crucial for proper brain function and development.
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技术参数
- 靶点基因名
- SYT1
- 基因别名
- SVP65; SYT
- 蛋白别名
- synaptotagmin 1; SYT1
- UniProt
- P21579
- 物种
- Human
产品详情
- 靶点名称
- SYT1
- 蛋白名称
- synaptotagmin 1
- 蛋白别名
- Synaptotagmin-1; Synaptotagmin I; SytI; p65
- 靶点基因名
- SYT1
- 基因别名
- SVP65; SYT
- UniProt
- P21579
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
SYT1 (Synaptotagmin 1) is a gene that encodes a protein involved in the regulation of synaptic vesicle exocytosis, which is the process of releasing neurotransmitters from neurons into the synaptic cleft. The SYT1 protein acts as a calcium sensor, triggering the fusion of synaptic vesicles with the presynaptic membrane when calcium levels rise, thereby enabling the release of neurotransmitters. Mutations or alterations in the SYT1 gene have been associated with various neurological and neurodevelopmental disorders. Studies have shown that disruptions in SYT1 function can lead to impaired neurotransmitter release, synaptic dysfunction, and neurological symptoms. For example, certain SYT1 mutations have been linked to forms of epilepsy, intellectual disability, and autism spectrum disorder. The specific mechanisms by which SYT1 dysfunction contributes to these diseases are still being investigated, but the role of SYT1 in regulating synaptic vesicle exocytosis and neurotransmitter release appears to be crucial for proper brain function and development.