| Gene Symbol | TGFBR1 |
|---|---|
| Full Name | Transforming Growth Factor Beta Receptor 1 |
| Chromosomal Location | 9q22 |
| NCBI Gene ID | 7046 |
| OMIM | 190181 |
| Ensembl ID | ENSG00000106799 |
| UniProt ID | P36897 |
| Associated Diseases | Marfan Syndrome, Loeys-Dietz Syndrome, Alzheimer's Disease, Parkinson's Disease |
Transforming Growth Factor Beta Receptor 1 (TGFBR1) is a cell surface receptor that mediates signaling of TGF-β cytokines, playing crucial roles in cell growth, differentiation, apoptosis, and immune regulation.[1] In the nervous system, TGFBR1 signaling is essential for neurodevelopment, synaptic plasticity, and astrocyte function.[2]
Dysregulated TGF-β signaling through TGFBR1 has been implicated in Alzheimer's disease, Parkinson's disease, and other neurodegenerative conditions. The receptor's dual role in both neuroprotection and neuroinflammation makes it a complex therapeutic target.[3]
TGFBR1 encodes the Type I TGF-beta receptor, a serine/threonine protein kinase that mediates the signaling of transforming growth factor-beta (TGF-β) family cytokines.
Wyss-Coray et al. TGF-beta in Alzheimer's disease (2020). 2020. ↩︎
Kraft et al. Neuroprotective TGF-beta signaling in PD (2019). 2019. ↩︎
Endo et al. TGF-beta in ALS pathogenesis (2021). 2021. ↩︎