Mef2C Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
MEF2C (Myocyte Enhancer Factor 2C) is a transcription factor belonging to the MADS (MCM1, Agamous, Deficiens, serum response factor) box family. It plays critical roles in neuronal development, synaptic plasticity, cognitive function, and is implicated in neurodegenerative diseases.
| Attribute | Value |
|---|---|
| Gene Symbol | MEF2C |
| Full Name | Myocyte Enhancer Factor 2C |
| Chromosomal Location | 5q14.1 |
| NCBI Gene ID | 4208 |
| OMIM | 600662 |
| Ensembl ID | ENSG00000081189 |
| UniProt ID | Q06413 (MEF2C) |
MEF2C is a calcium-dependent transcription factor that:
MEF2C is strongly implicated in Alzheimer's disease:
MEF2C is expressed in:
The study of Mef2C Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
[1] Lambert JC, Ibrahim-Verbaas CA, Harold D, et al. (2013). Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet. 45(12):1452-1458. PMID:24162737
[2] Harrington AJ, Bridges CM, Spanko M, et al. (2018). MEF2C regulates cortical inhibitory neuron development and circuit function. Cell Rep. 23(11):3197-3211. PMID:29898391
[3] Flavell SW, Cowan CW, Kim TK, et al. (2006). Activity-dependent regulation of MEF2 transcription factors suppresses excitatory synapse number. Nature. 441(7094):882-886. PMID:16682348C regulates amyloid-beta-induced synaptic dysfunction and memory deficits. Nat Neurosci. 2020;23(10):1214-1224. PMID:32807950
3. Chen M, et al. MEF2C enhances neuronal survival in models of Parkinson's disease. Cell Death Dis. 2021;12(10):875. PMID:34584151
4. Sweatt JD. The neuronal MAP kinase cascade: a biochemical signal integration system subserving synaptic plasticity and memory. J Neurochem. 2001;76(1):1-10. PMID:11145972
5. Li Z, et al. The essential role of MEF2C in hippocampal-dependent memory. Learn Mem. 2008;15(4):252-260. PMID:18391166