MAML1 (Mastermind-Like 1) is a transcriptional coactivator that forms a complex with Notch receptors to regulate gene expression. This gene plays important roles in the nervous system and has been implicated in various aspects of neurodegenerative disease pathogenesis.
| MAML1 Gene | |
|---|---|
| Gene Symbol | MAML1 |
| Full Name | Mastermind-Like 1 |
| Chromosomal Location | 5q35.1 |
| NCBI Gene ID | 60484 |
| OMIM | 604425 |
| Ensembl ID | ENSG00000142252 |
| UniProt ID | Q9CWU0 |
| Associated Diseases | Alzheimer's Disease, Cancer, Neurodevelopmental Disorders |
MAML1 encodes Mastermind-like protein 1, a transcriptional coactivator that is essential for Notch-mediated gene expression. MAML1 forms a complex with Notch intracellular domain and the transcription factor RBPJ, recruiting histone acetyltransferases to activate Notch target genes. Beyond Notch, MAML1 can also function with other transcription factors including p53 and β-catenin.
| Disease | Role | Mechanism |
|---|---|---|
| Alzheimer's Disease | Modifier | Notch target gene dysregulation affects amyloid processing |
| Cancer | Oncogene | MAML1 fusions in certain cancers |
| Neurodevelopmental Disorders | Risk Factor | Notch pathway disruption |
MAML1 is ubiquitously expressed with high levels in: