人 TMOD1 抗体对
01AB02326
Tropomodulin 1 (TMOD1) is a 40-kDa actin-binding protein that caps the pointed (slow-growing) ends of actin filaments, thereby regulating actin filament length and stability in a tissue-specific and developmentally regulated manner. TMOD1 binds both actin and tropomyosin, with its capping activity greatly enhanced by tropomyosin, and is essential for maintaining the structure of the erythrocyte membrane skeleton and the organization of sarcomeres in striated muscle. The protein is characterized by a tropomyosin-regulated capping domain and a leucine-rich repeat domain, and is post-translationally modified in red blood cells. Disease associations include Dehydrated Hereditary Stomatocytosis 1 (with or without pseudohyperkalemia and/or perinatal edema) and a neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures. TMOD1 dysfunction can disrupt actin filament regulation, leading to defects in erythrocyte membrane stability, cardiac conduction, and neurodevelopment.
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技术参数
- 靶点基因名
- TMOD1
- 基因别名
- D9S57E; TMOD
- 蛋白别名
- tropomodulin 1; TMOD1
- UniProt
- P28289
- 物种
- Human
产品详情
- 靶点名称
- TMOD1
- 蛋白名称
- tropomodulin 1
- 蛋白别名
- Tropomodulin-1; Erythrocyte tropomodulin; E-Tmod
- 靶点基因名
- TMOD1
- 基因别名
- D9S57E; TMOD
- UniProt
- P28289
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Tropomodulin 1 (TMOD1) is a 40-kDa actin-binding protein that caps the pointed (slow-growing) ends of actin filaments, thereby regulating actin filament length and stability in a tissue-specific and developmentally regulated manner. TMOD1 binds both actin and tropomyosin, with its capping activity greatly enhanced by tropomyosin, and is essential for maintaining the structure of the erythrocyte membrane skeleton and the organization of sarcomeres in striated muscle. The protein is characterized by a tropomyosin-regulated capping domain and a leucine-rich repeat domain, and is post-translationally modified in red blood cells. Disease associations include Dehydrated Hereditary Stomatocytosis 1 (with or without pseudohyperkalemia and/or perinatal edema) and a neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures. TMOD1 dysfunction can disrupt actin filament regulation, leading to defects in erythrocyte membrane stability, cardiac conduction, and neurodevelopment.