TNNI3 - Troponin I, cardiac muscle - human protein (Medical)
 
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TNNI3 »  Troponin I, cardiac muscle
 
Protein also known as:  Cardiac troponin I.
Gene name:  TNNI3
Family name: Troponin I
Entry whose protein(s) existence is based on evidence at protein level
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1 179 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

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Disease 
Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210]: A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Cardiomyopathy, dilated 2A (CMD2A) [MIM:611880]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Cardiomyopathy, dilated 1FF (CMD1FF) [MIM:613286]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Familial isolated dilated cardiomyopathy  154  
Familial isolated hypertrophic cardiomyopathy  155  
Familial isolated restrictive cardiomyopathy  75249  
 

Keywords

Disease 
Cardiomyopathy  definition   [KW-0122]
Disease mutation  definition   [KW-0225]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 7137
MIM: 611880
MIM: 613286
MIM: 613690
MIM: 115210
PharmGKB: PA36636
Polymorphism databases
DMDM: 136213
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.