MEF2A Chromosome 15
Myocyte enhancer factor 2A
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What This Gene Does
The protein encoded by this gene is a DNA-binding transcription factor that activates many muscle-specific, growth factor-induced, and stress-induced genes. The encoded protein can act as a homodimer or as a heterodimer and is involved in several cellular processes, including muscle development, neuronal differentiation, cell growth control, and apoptosis. Defects in this gene could be a cause of autosomal dominant coronary artery disease 1 with myocardial infarction (ADCAD1). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
Gene Info
Gene Group
"Myocyte enhancer factor 2 proteins|MADS box family"
Locus Type
gene with protein product
Location
15q26.3
Ensembl
ENSG00000068305
Associated Conditions (4)
Coronary artery disease/myocardial infarction
Coronary artery disease
autosomal dominant
1
Key Variants
RS121918529
Pathogenic
Coronary artery disease/myocardial infarction, Coronary artery disease, autosomal dominant
Health Risk
RS121918531
Pathogenic
Coronary artery disease/myocardial infarction, Coronary artery disease/myocardial infarction
Health Risk
RS1297176531
Pathogenic
Coronary artery disease, autosomal dominant, 1
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121918529 | Health Risk | Pathogenic | Coronary artery disease/myocardial infarction, Coronary artery disease, autosomal dominant |
| RS121918531 | Health Risk | Pathogenic | Coronary artery disease/myocardial infarction, Coronary artery disease/myocardial infarction |
| RS1297176531 | Health Risk | Pathogenic | Coronary artery disease, autosomal dominant, 1 |