人 TOR1AIP2 抗体对
01AB02336
Torsin-1A-interacting protein 2 (TOR1AIP2), also known as IFG15, is a type II integral membrane protein localized to the endoplasmic reticulum (ER). It acts as an essential cofactor for the AAA+ ATPase TorsinA, regulating its distribution between the ER and the nuclear envelope and stimulating its ATPase activity. TOR1AIP2 is critical for maintaining ER integrity, nuclear envelope structure, and protein homeostasis. Some isoforms are interferon-inducible, suggesting additional roles in immune-related stress responses. Clinically, variants in TOR1AIP2 are associated with autosomal recessive myopathy with rigid spine and distal joint contractures, as well as limb-girdle-type muscular dystrophy. These pathologies result from the disruption of ER and nuclear envelope functions, sharing mechanistic features with TorsinA-related dystonia.
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技术参数
- 靶点基因名
- TOR1AIP2
- 基因别名
- IFRG15; LULL1
- 蛋白别名
- Torsin-1A-interacting protein 2 (Lumenal domain-like LAP1); TOR1AIP2
- UniProt
- Q8NFQ8
- 物种
- Human
产品详情
- 靶点名称
- TOR1AIP2
- 蛋白名称
- Torsin-1A-interacting protein 2 (Lumenal domain-like LAP1)
- 蛋白别名
- Torsin-1A-interacting protein 2; Lumenal domain-like LAP1
- 靶点基因名
- TOR1AIP2
- 基因别名
- IFRG15; LULL1
- UniProt
- Q8NFQ8
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Torsin-1A-interacting protein 2 (TOR1AIP2), also known as IFG15, is a type II integral membrane protein localized to the endoplasmic reticulum (ER). It acts as an essential cofactor for the AAA+ ATPase TorsinA, regulating its distribution between the ER and the nuclear envelope and stimulating its ATPase activity. TOR1AIP2 is critical for maintaining ER integrity, nuclear envelope structure, and protein homeostasis. Some isoforms are interferon-inducible, suggesting additional roles in immune-related stress responses. Clinically, variants in TOR1AIP2 are associated with autosomal recessive myopathy with rigid spine and distal joint contractures, as well as limb-girdle-type muscular dystrophy. These pathologies result from the disruption of ER and nuclear envelope functions, sharing mechanistic features with TorsinA-related dystonia.