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Symbol MEF2C contributors: mct/ - updated : 18-08-2015
HGNC name myocyte enhancer factor 2C
HGNC id 6996
corresponding disease(s) DEL5Q14
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral       gain of function
activated by multiple mechanisms in a subset of T-acute lymphoblastic leukemia cell lines
constitutional     --low  
of endogenous GNA13 and MEF2 proteins in endothelial cells reduced cell proliferation and capillary tube formation
Susceptibility to infantile spasms (ISS)
Variant & Polymorphism other CNV associated with infantile spasms (ISS)
Candidate gene
Therapy target
  • mice displayed autistic phenotypes resembling Rett syndrome in that they manifested altered anxiety and increased stereotypy (purposeless movements) on neurobehavioral testing, representing key characteristics of autism-spectrum disorders
  • inactivation of Mef2c in the neural crest of mice results in reduced expression of melanocyte genes during development and a significant loss of pigmentation at birth due to defective differentiation and reduced abundance of melanocytes