MYL3 - Myosin light chain 3 - human protein (Medical)
 
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Protein
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MYL3 »  Myosin light chain 3
 
Protein also known as:  Myosin light chain 1, slow-twitch muscle B/ventricular isoform (MLC1SB).
Gene name:  MYL3
Entry whose protein(s) existence is based on evidence at protein level
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1 24 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

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Disease 
Cardiomyopathy, familial hypertrophic 8 (CMH8) [MIM:608751]: 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. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following disease:
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: 4634
MIM: 608751
PharmGKB: PA31381
Polymorphism databases
DMDM: 127149
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.