Overview
| 别名 | Torsin-1A-interacting protein 2; Lumenal domain-like LAP1 |
| 基因名 | TOR1AIP2 |
| UniProt ID | Q8NFQ8 |
| 反应种属 | Human |
| 应用 | IHC-P |
| 宿主 | Mouse |
| 偶联物 | Unconjugated |
| 修饰 | Unmodified |
| 亚型 | IgG1 |
| 克隆号 | 3I4-R1-N5 |
| 克隆性 | Monoclonal Antibody |
| 分子量 | Calculated MW: 51 kDa |
| 纯化方式 | Affinity Purified |
| 产品形式 | Liquid |
| 推荐稀释比 | IHC-1:200-1:250 |
| 存储缓冲液 | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.09% sodium azide |
| 保存温度 | Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles. |
| 背景信息 | 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. |
检测原理