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FLASH GENE
Symbol MEF2C contributors: mct/ - updated : 18-08-2015
HGNC name myocyte enhancer factor 2C
HGNC id 6996
ASSOCIATED DISORDERS
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
Marker
Therapy target
ANIMAL & CELL MODELS
  • 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