GeneID: 55
Names
| Common Name: | TGFB1 | Type: | Gene |
|---|---|---|---|
| Chromosome: | 19 (NC_000019.10) | Locus: | NG_013364.1 (TGFB1) |
| HUGO Symbol: | TGFB1 | Full Name: | transforming growth factor beta 1 |
| Exons: | 7 | Introns: | 6 |
Description:
TGFB1 is a member of the transforming growth factor β (TGFβ) family of cytokines, which have crucial roles in multiple cellular processes including proliferation, differentiation, adhesion, migration and death. TGFB1 is synthesized in cells as a pro-TGFB1 precursor. Following homodimerization, pro-TGFB1 is cleaved into two fragments, the latency-associated peptide and the mature peptide, which associate to yield a latent TGFB1 complex. The secreted protein requires extracellular processing and activation for receptor binding and subsequent intracellular propagation of the TGFβ signal. Many cells have TGFB1 receptors, and the protein positively and negatively regulates many other factors. TGFB1 plays an important role in bone remodeling as it is a potent stimulator of osteoblastic bone formation. Polymorphisms in this gene have been associated with bone mineral density (osteoporosis) in β-thalassemia patients.
Synonyms: CED , TGFbeta , TGFB , LAP , DPD1
Comments:
N/A
Number of entries/variants: 2
Publications / Origin
- ten Dijke P, Arthur HM, Extracellular control of TGFbeta signalling in vascular development and disease., Nat. Rev. Mol. Cell Biol. , 8(11), 857-69, 2007
- Singh K, Agarwal S, Shukla A, Gupta S, A sequence variation: 713-8delC in the transforming growth factor beta 1 gene polymorphism in thalassemia major patients., J Clin Densitom , 17(1), 185-9, 2014