人 NEB 抗体对
01AB04102
Nebulin (NEB) is an essential giant protein found in skeletal muscle, characterized by its molecular weight of 600 to 900 kDa and its role as a key component of the thin filament in sarcomeres. It functions primarily as a "ruler" for thin filament length, binding approximately 200 actin monomers and regulating their assembly during muscle contraction. Beyond its structural role, nebulin is involved in the regulation of muscle contraction dynamics, including cross-bridge cycling and calcium sensitivity, thereby influencing overall muscle force generation. Mutations in the NEB gene are linked to nemaline myopathy, a rare autosomal recessive disorder that leads to muscle weakness and structural abnormalities in muscle fibers. This condition is characterized by the presence of nemaline bodies within muscle tissue, which are indicative of disrupted contractile function due to nebulin deficiency. The intricate structure of nebulin, with multiple actin-binding domains and regulatory motifs, underscores its critical role in maintaining muscle integrity and function.
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技术参数
- 靶点基因名
- NEB
- 蛋白别名
- nebulin; NEB
- UniProt
- P20929
- 物种
- Human
产品详情
- 靶点名称
- NEB
- 蛋白名称
- nebulin
- 蛋白别名
- Nebulin
- 靶点基因名
- NEB
- UniProt
- P20929
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Nebulin (NEB) is an essential giant protein found in skeletal muscle, characterized by its molecular weight of 600 to 900 kDa and its role as a key component of the thin filament in sarcomeres. It functions primarily as a "ruler" for thin filament length, binding approximately 200 actin monomers and regulating their assembly during muscle contraction. Beyond its structural role, nebulin is involved in the regulation of muscle contraction dynamics, including cross-bridge cycling and calcium sensitivity, thereby influencing overall muscle force generation. Mutations in the NEB gene are linked to nemaline myopathy, a rare autosomal recessive disorder that leads to muscle weakness and structural abnormalities in muscle fibers. This condition is characterized by the presence of nemaline bodies within muscle tissue, which are indicative of disrupted contractile function due to nebulin deficiency. The intricate structure of nebulin, with multiple actin-binding domains and regulatory motifs, underscores its critical role in maintaining muscle integrity and function.