MYH7 - Myosin-7 - human protein (Medical)
 
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Protein
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References

 
MYH7 »  Myosin-7
 
Protein also known as:  Myosin heavy chain, cardiac muscle beta isoform (MyHC-beta).
Gene name:  MYH7
Entry whose protein(s) existence is based on evidence at protein level
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GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

 show evidences
Disease 
Cardiomyopathy, familial hypertrophic 1 (CMH1) [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.  
52
  • CuratedUniProtKB
Myopathy, myosin storage (MYOMS) [MIM:608358]: A rare congenital myopathy characterized by subsarcolemmal hyalinized bodies in type 1 muscle fibers. The disease is caused by mutations affecting the gene represented in this entry.  
3
  • CuratedUniProtKB
Scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430]: Progressive muscular atrophia beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm. The disease is caused by mutations affecting the gene represented in this entry.  
1
  • CuratedUniProtKB
Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]: 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.  
4
  • CuratedUniProtKB
Myopathy, distal, 1 (MPD1) [MIM:160500]: A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease. The disease is caused by mutations affecting the gene represented in this entry.  
2
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Classic multiminicore myopathy  324604  
Ebstein malformation  1880  
Familial isolated dilated cardiomyopathy  154  
Familial isolated hypertrophic cardiomyopathy  155  
Hyaline body myopathy  53698  
Laing early-onset distal myopathy  59135  
Left ventricular noncompaction  54260  
 

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: 4625
GeneReviews: MYH7
MIM: 613426
MIM: 608358
MIM: 181430
MIM: 160500
MIM: 192600
PharmGKB: PA31374
Polymorphism databases
DMDM: 83304912
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.