人心肌肌钙蛋白 I 抗体对
01AB01104
The TNNI3 gene encodes cardiac troponin I（cTnI）, a protein specific to the heart muscle that is part of the troponin complex involved in muscle contraction regulation. Mutations in TNNI3 are linked to various cardiomyopathies like hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), and dilated cardiomyopathy (DCM). These mutations can lead to different forms of cardiomyopathy with variable penetrance, affecting cardiac function and potentially causing severe clinical outcomes. In familial hypertrophic cardiomyopathy, TNNI3 mutations are associated with thickening of the cardiac muscle, increasing the risk of heart failure and sudden death. Familial restrictive cardiomyopathy, characterized by heart muscle stiffening, can result from specific TNNI3 mutations that impair protein function, leading to abnormal heart relaxation and function. Additionally, mutations in TNNI3 can cause dilated cardiomyopathy, a condition that weakens and enlarges the heart, impacting its ability to pump blood efficiently.
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技术参数
- 靶点基因名
- TNNI3
- 基因别名
- TNNC1
- 蛋白别名
- troponin I3, cardiac type; Cardiac Troponin I
- UniProt
- P19429
- 物种
- Human
产品详情
- 靶点名称
- Cardiac Troponin I
- 蛋白名称
- troponin I3, cardiac type
- 蛋白别名
- Troponin I; cardiac muscle; Cardiac troponin I
- 靶点基因名
- TNNI3
- 基因别名
- TNNC1
- UniProt
- P19429
- 来源物种
- /
背景介绍
The TNNI3 gene encodes cardiac troponin I（cTnI）, a protein specific to the heart muscle that is part of the troponin complex involved in muscle contraction regulation. Mutations in TNNI3 are linked to various cardiomyopathies like hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), and dilated cardiomyopathy (DCM). These mutations can lead to different forms of cardiomyopathy with variable penetrance, affecting cardiac function and potentially causing severe clinical outcomes. In familial hypertrophic cardiomyopathy, TNNI3 mutations are associated with thickening of the cardiac muscle, increasing the risk of heart failure and sudden death. Familial restrictive cardiomyopathy, characterized by heart muscle stiffening, can result from specific TNNI3 mutations that impair protein function, leading to abnormal heart relaxation and function. Additionally, mutations in TNNI3 can cause dilated cardiomyopathy, a condition that weakens and enlarges the heart, impacting its ability to pump blood efficiently.