TGFB1 encodes Transforming Growth Factor Beta 1, a key cytokine with complex roles in neuroinflammation, neuroprotection, and synaptic plasticity. Dysregulation of TGFB1 signaling is implicated in multiple neurodegenerative diseases including Alzheimer's disease (AD), Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS)[1].
| Attribute | Value |
|---|---|
| Gene Symbol | TGFB1 |
| Chromosomal Location | 19q13.2 |
| Official Full Name | Transforming Growth Factor Beta 1 |
| UniProt ID | P01137 |
| Ensembl ID | ENSG00000127616 |
| Gene Type | Protein coding |
| Length | 23,431 bp (genomic) |
| Protein Length | 390 amino acids (latent propeptide + 112 aa mature) |
TGF-beta1 is synthesized as a preproprotein consisting of:
TGF-beta1 requires activation from its latent form:
Active TGF-beta1 binds to:
TGF-beta1 has complex, stage-dependent roles in AD[2]:
In PD, TGF-beta1 signaling is implicated in[3]:
TGF-beta1 dysregulation is observed in ALS[4]:
TGFβ effects on immune cells[1:1]
Microglial modulation:
Tesseur I, Zou K, Esposito L, et al. Deficiency in neuronal TGF-beta signaling leads to Alzheimer's-like cognitive deficits. Nature Neuroscience. 2006. ↩︎ ↩︎
Caraci F, Spampinato S, Sortino MA, et al. Dysfunction of TGF-beta signaling in Alzheimer's disease. Journal of Alzheimer's Disease. 2012. ↩︎
Sanches MM, Nico BA, Tomiyama CA, et al. TGF-beta1 as a therapeutic target in Parkinson's disease. Neurobiology of Disease. 2021. ↩︎
Phatnani H, Guarnieri P, Friedman MA, et al. ALS-associated genes show increased expression at disease onset in mouse models and human post-mortem tissue. Proceedings of the National Academy of Sciences. 2013. ↩︎