Symbol
| MYOCD
| contributors: shn/mct - updated : 27-04-2017
|
HGNC name
| myocardin
|
HGNC id
| 16067
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
| --over
|  
|
in response to vascular injury | tumoral
|  
| translocation
|  
|  
|
translocation t(17;22) (q22;q13) with chimeric proteins 5' - COL1A1 - PDGFB - 3'in dermatofibrosarcoma protuberans | tumoral
|  
|  
| --other
|  
|
dysregulation of expression in meningiomas | constitutional
|  
|  
| --over
|  
|
upon induction of hypertrophy in cultured cardiomyocytes and in patients with left ventricular hypertrophy | |
Susceptibility
|
to inter-individual differences in the development of cardiac hypertrophy |
Variant & Polymorphism
other
| polymorphism in the promoter contributing to inter-individual differences in the development of cardiac hypertrophy |
|
|
Candidate gene
Marker
Therapy target
| | | |
| embryos homozygous for a myocardin loss-of-function mutation died by embryonic day 10.5 and showed no evidence of vascular smooth muscle cell differentiation | |
mice harboring cardiomyocyte-restricted null mutations of the myocardin gene should provide new insights into the pathogenesis of dilated and arrhythmogenic cardiomyopathy and identify novel therapeutic targets for these debilitating diseases |