DLL3 (Delta-Like 3) is a Notch ligand involved in embryonic neurodevelopment and boundary formation in the nervous system. This gene plays important roles in the nervous system and has been implicated in various aspects of neurodegenerative disease pathogenesis.
| DLL3 Gene | |
|---|---|
| Gene Symbol | DLL3 |
| Full Name | Delta-Like 3 |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 27197 |
| OMIM | 604579 |
| Ensembl ID | ENSG00000090932 |
| UniProt ID | Q9NZU6 |
| Associated Diseases | Neurodevelopmental Disorders, Spondylocostal Dysostosis, Alzheimer's Disease |
DLL3 encodes Delta-like protein 3, a membrane-bound ligand for Notch receptors. Unlike other DLL proteins, DLL3 has unique inhibitory functions in the Notch pathway. It localizes primarily to the Golgi apparatus and acts as a negative regulator of Notch signaling. DLL3 is crucial for somite segmentation during embryonic development and is expressed in the developing nervous system.
| Disease | Role | Mechanism |
|---|---|---|
| Spondylocostal Dysostosis | Causative | DLL3 mutations cause autosomal dominant spondylocostal dysostosis |
| Neurodevelopmental Disorders | Modifier | Altered DLL3 affects neural development |
| Alzheimer's Disease | Risk Factor | DLL1-Notch dysregulation affects neurogenesis |
DLL3 is expressed in the brain and may play roles in neural development and Notch-dependent processes.
DLL3 is expressed in: