MEF2BNB
MEF2B: A Master Regulator of Gene Expression and Disease
Description
MEF2B is a member of the myocyte enhancer factor 2 (MEF2) family of transcription factors. These proteins play a crucial role in regulating the expression of numerous genes involved in various cellular processes, including muscle development, neuronal function, and immune responses. MEF2B specifically regulates genes essential for heart development and function.
Associated Diseases
Mutations in the MEF2B gene have been linked to several human diseases, including:
- Congenital heart defects: MEF2B mutations can cause a range of heart defects, such as atrial septal defects (holes in the heart wall) and hypertrophic cardiomyopathy (a condition where the heart muscle becomes abnormally thick).
- Neurodevelopmental disorders: MEF2B mutations have also been implicated in neurodevelopmental disorders such as intellectual disability, autism spectrum disorder, and schizophrenia.
- Immune system disorders: MEF2B plays a role in regulating immune responses, and mutations in the gene can lead to impaired immune function and increased susceptibility to infections.
Did you Know ?
Studies have shown that approximately 1 in every 5,000 newborns has a mutation in the MEF2B gene. This makes MEF2B mutations a relatively common cause of congenital heart defects and neurodevelopmental disorders.
