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FLASH GENE
Symbol MYOCD contributors: shn/mct - updated : 27-04-2017
HGNC name myocardin
HGNC id 16067
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
ANIMAL & CELL MODELS
  • 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