人 LRRK2 抗体对
01AB04083
Leucine-rich repeat kinase 2 (LRRK2) is a large multidomain protein implicated in the pathogenesis of Parkinson's disease (PD), particularly through its role as a kinase. Mutations in the LRRK2 gene, especially the G2019S variant, are recognized as significant genetic risk factors for both familial and sporadic forms of PD, contributing to approximately 5-6% of familial cases and 1-3% of sporadic cases. These mutations often lead to increased kinase activity, which is thought to enhance neurotoxic effects and disrupt cellular processes such as vesicular trafficking and synaptic transmission, ultimately resulting in dopaminergic neuron degeneration and the formation of Lewy bodies characterized by α-synuclein accumulation. Beyond PD, LRRK2 has been linked to various other diseases, underscoring its multifaceted role in cellular signaling and pathology.
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技术参数
- 靶点基因名
- LRRK2
- 基因别名
- PARK8
- 蛋白别名
- leucine rich repeat kinase 2; LRRK2
- UniProt
- Q5S007
- 物种
- Human
产品详情
- 靶点名称
- LRRK2
- 蛋白名称
- leucine rich repeat kinase 2
- 蛋白别名
- Leucine-rich repeat serine/threonine-protein kinase 2; Dardarin
- 靶点基因名
- LRRK2
- 基因别名
- PARK8
- UniProt
- Q5S007
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Leucine-rich repeat kinase 2 (LRRK2) is a large multidomain protein implicated in the pathogenesis of Parkinson's disease (PD), particularly through its role as a kinase. Mutations in the LRRK2 gene, especially the G2019S variant, are recognized as significant genetic risk factors for both familial and sporadic forms of PD, contributing to approximately 5-6% of familial cases and 1-3% of sporadic cases. These mutations often lead to increased kinase activity, which is thought to enhance neurotoxic effects and disrupt cellular processes such as vesicular trafficking and synaptic transmission, ultimately resulting in dopaminergic neuron degeneration and the formation of Lewy bodies characterized by α-synuclein accumulation. Beyond PD, LRRK2 has been linked to various other diseases, underscoring its multifaceted role in cellular signaling and pathology.