Accelerating a cure. Enhancing care.
What is MEF2C and why does it matter?
Myocyte Enhancer Factor 2C (MEF2C) is a gene located on chromosome 5 band 14.3 and was discovered in 1993 by Dr. Stuart Lipton at Harvard Medical School.
The MEF2C gene encodes for a type of protein known as a transcription factor. Transcription factors control the activation and deactivation of other genes. These genes include MECP2 and CDKL5, which also play a role in Rett syndrome and CDKL5 deficiency disorder.
MEF2C is known to regulate the expression of a large number of genes important to the development and maintenance of many tissues within the body, including the brain.
Neuron growth, synaptic development, maintenance and remodeling are just a few of the processes involving MEF2C that are critical for proper nervous system development and function; and MEF2C is a gene group that has been implicated in Autism.
MEF2C is also known to play a role in the immune system however research into this area is still in its infancy.
Our mission is to accelerate research and development to find treatments and a cure for individuals with MCHS (Myocyte Enhancer Factor 2 Haploinsufficiency Syndrome) and other MEF2C disorders caused by pathogenic mutations on the MEF2C gene; and to connect families with information and support that will enhance care.
n order to accomplish our mission it is our goal to create opportunities for collaboration within the scientific community.
Our Mission
Contact us
For more information on regional advocacy efforts, critical areas of research, treatments in the pipeline, therapeutic support and how you can support our mission to aggressively fund treatments, please contact us.
Corporate Address:
8 The Green, Suite 8114
Dover, Delaware 19901
Phone: (302) 899-1706