TCAP - Telethonin - human protein (Medical)
 
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Protein
Gene
References

 
TCAP »  Telethonin
 
Protein also known as:  Titin cap protein.
Gene name:  TCAP
Entry whose protein(s) existence is based on evidence at protein level
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1 38 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

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Disease 
Cardiomyopathy, familial hypertrophic (CMH) [MIM:192600]: 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
Limb-girdle muscular dystrophy 2G (LGMD2G) [MIM:601954]: An autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. Cardiac muscle is involved in a subset of patients. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Cardiomyopathy, dilated 1N (CMD1N) [MIM:607487]: 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:
Autosomal recessive limb-girdle muscular dystrophy type 2G  34514  
Familial isolated dilated cardiomyopathy  154  
Familial isolated hypertrophic cardiomyopathy  155  
 

Keywords

Disease 
Cardiomyopathy  definition   [KW-0122]
Disease mutation  definition   [KW-0225]
Limb-girdle muscular dystrophy  definition   [KW-0947]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

CTD: 8557
MIM: 607487
MIM: 601954
MIM: 192600
PharmGKB: PA36370
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.