VCL - Vinculin - human protein (Medical)
 
Home Recent activites arrow-down favorite My favorites arrow-down favorite My labels arrow-down Downloads
Back to ...  
Publication View
Protein
Gene
References

 
VCL »  Vinculin
 
Protein also known as:  Metavinculin (MV).
Gene name:  VCL
Family name: Vinculin/alpha-catenin
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 102 3
GENE REF ISO

Displayed isoform: Iso 2     

 
 

Medical

 show evidences
Disease 
Cardiomyopathy, dilated 1W (CMD1W) [MIM:611407]: 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, familial hypertrophic 15 (CMH15) [MIM:613255]: 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
According to Orphanet, this protein is involved in the following diseases:
Familial isolated dilated cardiomyopathy  154  
Familial isolated hypertrophic cardiomyopathy  155  
 

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: 7414
MIM: 611407
MIM: 613255
PharmGKB: PA37288
Polymorphism databases
DMDM: 21903479
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.