人 NF2 抗体对
01AB03349
Merlin (NF2) is a tumor suppressor protein that plays a crucial role in regulating cell growth, adhesion, and signaling pathways, particularly in Schwann cells of the nervous system. It contains a unique structure with a central domain that facilitates interactions with other proteins involved in cytoskeletal organization and cell signaling. Merlin functions to inhibit cell proliferation and maintain cellular architecture, acting as a critical regulator of the Hippo signaling pathway. Mutations in the NF2 gene lead to neurofibromatosis type 2 (NF2), a genetic disorder characterized by the development of bilateral vestibular schwannomas, meningiomas, and ependymomas. These tumors can result in significant neurological symptoms such as hearing loss and balance issues. The severity of NF2 is often linked to the type of mutation; truncating mutations typically correlate with more severe phenotypes.
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技术参数
- 靶点基因名
- NF2
- 基因别名
- SCH
- 蛋白别名
- NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor; NF2
- UniProt
- P35240
- 物种
- Human
产品详情
- 靶点名称
- NF2
- 蛋白名称
- NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
- 蛋白别名
- Merlin; Moesin-ezrin-radixin-like protein; Neurofibromin-2; Schwannomerlin; Schwannomin
- 靶点基因名
- NF2
- 基因别名
- SCH
- UniProt
- P35240
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Merlin (NF2) is a tumor suppressor protein that plays a crucial role in regulating cell growth, adhesion, and signaling pathways, particularly in Schwann cells of the nervous system. It contains a unique structure with a central domain that facilitates interactions with other proteins involved in cytoskeletal organization and cell signaling. Merlin functions to inhibit cell proliferation and maintain cellular architecture, acting as a critical regulator of the Hippo signaling pathway. Mutations in the NF2 gene lead to neurofibromatosis type 2 (NF2), a genetic disorder characterized by the development of bilateral vestibular schwannomas, meningiomas, and ependymomas. These tumors can result in significant neurological symptoms such as hearing loss and balance issues. The severity of NF2 is often linked to the type of mutation; truncating mutations typically correlate with more severe phenotypes.