| Symbol | SMAD9 |
| Full Name | SMAD family member 9 |
| Chromosome | 13q14.11 |
| NCBI Gene ID | 4094 |
| OMIM | 603295 |
| Ensembl ID | ENSG00000120798 |
| UniProt ID | O15118 |
| Associated Diseases | Primary pulmonary hypertension, Hereditary hemorrhagic telangiectasia |
SMAD9 (SMAD8) is a receptor-regulated SMAD that primarily mediates BMP signaling. It shares functional similarities with SMAD1 and SMAD5. SMAD9 is essential for vascular development, pulmonary hypertension, and bone formation. In the nervous system, SMAD9 is involved in neural crest development, neurogenesis, and oligodendrocyte differentiation. It plays roles in white matter development and may be relevant to demyelinating diseases.
Expressed in various tissues with high levels in lung, heart, brain, and placenta. In brain, expressed in neurons, oligodendrocyte precursors, and endothelial cells. Important for vascular development in CNS.
The SMAD9 gene is associated with the following neurodegenerative and neurological conditions:
Primary pulmonary hypertension, Hereditary hemorrhagic telangiectasia
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.