人 TOR1AIP1 抗体对
01AB02109
Torsin 1A interacting protein 1 (TOR1AIP1), also known as LAP1, is a type II integral membrane protein localized to the inner nuclear membrane. It plays a critical role in maintaining nuclear envelope integrity and chromatin organization by binding to A- and B-type lamins and activating the AAA+ ATPases torsinA and torsinB. Beyond its structural role, TOR1AIP1 participates in mitosis, centrosome positioning, and microtubule organization. Clinically, biallelic variants in TOR1AIP1 cause a spectrum of autosomal recessive nuclear envelopathies, including limb-girdle muscular dystrophy type 2Y, rigid-spine myopathy, and cardiomyopathy. Some cases also present with progeroid features and multisystem disease, characterized by early-onset muscle weakness and joint contractures. Additionally, dysregulated TOR1AIP1 expression has been implicated in the progression and prognosis of certain cancers, such as kidney renal clear cell carcinoma.
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技术参数
- 靶点基因名
- TOR1AIP1
- 基因别名
- LAP1
- 蛋白别名
- torsin 1A interacting protein 1; TOR1AIP1
- UniProt
- Q5JTV8
- 物种
- Human
产品详情
- 靶点名称
- TOR1AIP1
- 蛋白名称
- torsin 1A interacting protein 1
- 蛋白别名
- Torsin-1A-interacting protein 1; Lamin-associated protein 1B; LAP1B
- 靶点基因名
- TOR1AIP1
- 基因别名
- LAP1
- UniProt
- Q5JTV8
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Torsin 1A interacting protein 1 (TOR1AIP1), also known as LAP1, is a type II integral membrane protein localized to the inner nuclear membrane. It plays a critical role in maintaining nuclear envelope integrity and chromatin organization by binding to A- and B-type lamins and activating the AAA+ ATPases torsinA and torsinB. Beyond its structural role, TOR1AIP1 participates in mitosis, centrosome positioning, and microtubule organization. Clinically, biallelic variants in TOR1AIP1 cause a spectrum of autosomal recessive nuclear envelopathies, including limb-girdle muscular dystrophy type 2Y, rigid-spine myopathy, and cardiomyopathy. Some cases also present with progeroid features and multisystem disease, characterized by early-onset muscle weakness and joint contractures. Additionally, dysregulated TOR1AIP1 expression has been implicated in the progression and prognosis of certain cancers, such as kidney renal clear cell carcinoma.