Symbol
| MEF2C
| contributors: mct/ - updated : 18-08-2017
|
HGNC name
| myocyte enhancer factor 2C
|
HGNC id
| 6996
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein 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
| | | |
| 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 |
|
Mef2c knock-down in murine 661W cells reduced the expression of Arr3 and Opn1mw but increased transcript levels of Mapk15 and Pde6h |