| Symbol | SMAD6 |
| Full Name | SMAD family member 6 |
| Chromosome | 15q22.21 |
| NCBI Gene ID | 4092 |
| OMIM | 607929 |
| Ensembl ID | ENSG00000168487 |
| UniProt ID | O43541 |
| Associated Diseases | PHACE syndrome, Cancer, Fibrosis |
SMAD6 is an inhibitory SMAD that negatively regulates BMP and TGF-β signaling. It competes with R-SMADs for receptor interaction and inhibits SMAD4 complex formation. SMAD6 plays important roles in bone development, cardiovascular morphogenesis, and immune regulation. In the nervous system, SMAD6 is involved in synaptic plasticity, dendritic spine formation, and neuroinflammation. It may have neuroprotective roles in some contexts.
Moderately expressed with highest levels in heart, brain, and lung. In brain, expressed in neurons and astrocytes. Higher expression in cortex and hippocampus.
The SMAD6 gene is associated with the following neurodegenerative and neurological conditions:
PHACE syndrome, Cancer, Fibrosis
This section provides background information on the gene/protein and its role in the nervous system.
This overview section needs to be expanded with relevant scientific information from peer-reviewed sources.