Myocyte-specific enhancer factor 2A

Myocyte-specific enhancer factor 2A (MEF2A) is a protein that in humans is encoded by the MEF2A gene. The pronunciation of Myocyte-specific enhancer factor 2A is /maɪəˌsaɪt spɪˈsɪfɪk ɪnˈhænsər fækˈtər 2A/. The term originates from the words "myocyte", which refers to a type of muscle cell, "specific", "enhancer", which is a short region of DNA that can be bound with proteins to enhance transcription levels of genes in a cell, and "factor 2A".

Function

The MEF2A gene product is a DNA-binding protein that is a member of the MEF2 family of transcription factors. These proteins are involved in the differentiation and development of muscle cells, specifically in the heart and skeletal muscles. They play a crucial role in the response of cells to external signals and control the expression of several genes involved in muscle development.

Clinical significance

Mutations in the MEF2A gene have been associated with coronary artery disease and myocardial infarction. Studies have shown that the MEF2A gene may play a role in the pathogenesis of these diseases.

Related terms

Myocyte: A type of cell found in muscle tissue.
Enhancer (genetics): A short region of DNA that can be bound by proteins to increase the likelihood of transcription of a particular gene.
Transcription factor: A protein that controls the rate of transcription of genetic information from DNA to messenger RNA.
Coronary artery disease: A disease of the heart caused by the build-up of plaque in the coronary arteries.
Myocardial infarction: Commonly known as a heart attack, it occurs when blood flow decreases or stops to a part of the heart, causing damage to the heart muscle.