TGFB1 gene is a gene located on chromosome 19q13.2 that encodes the eponymous protein TGFB1. Ligands of this protein family(transforming growth factor: 3 isoforms exist) bind different TGF-beta receptors, leading to the recruitment and activation of transcription factors of the SMAD family, which regulate gene expression.
TGFB1 gene
DefinitionThis section has been translated automatically.
PathophysiologyThis section has been translated automatically.
The encoded preprotein is proteolytically processed to generate a latent-associated peptide (LAP) and a mature peptide. It is present either in a latent form consisting of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting of only the mature peptide homodimer.
The mature peptide may also form heterodimers with other members of the TGFB family . The encoded protein regulates cell proliferation, differentiation, and growth and may modulate the expression and activation of other growth factors such as interferon gamma and tumor necrosis factor-alpha. The TGFB1 gene is frequently upregulated in tumor cells.
Clinical pictureThis section has been translated automatically.
Mutations in the TGFB1 gene are associated with leading Camurati-Engelmann disease (Hughes Pet al 2019). Other associations include inflammatory bowel disease and encephalopathy, progressive pulmonary fibrosis (Ask K et al. 2008), corneal dystrophy type I (Hilton EN et al. 2007), and otosclerosis (Priyadarshi S et al. 2016).
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Corneal dystrophy type I is a very rare congenital form of granular corneal dystrophy with multiple small superficial deposits centrally in the stroma of the cornea.
LiteratureThis section has been translated automatically.
- Ask K et al. (2008) Progressive pulmonary fibrosis is mediated by TGF-beta isoform 1 but not TGF-beta3. Int J Biochem Cell Biol 40:484-495.
- Biler ED et al (2018) <i>TGFB1</i> and <i>LAMA1 gene</i> polymorphisms in children with high myopia. Pak J Med Sci 34:463-467.
- Hilton EN et al (2007) De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy. Br J Ophthalmol 91:1083-1084.
- Hughes Pet al. (2019) Observations on the natural history of Camurati-Engelmann disease. J Bone Miner Res 34:875-882.
- Kotlarz D et al (2018) Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy. Nat Genet 50:344-348.
- Priyadarshi S et al (2016) Otosclerosis Associated with a De Novo Mutation -832G > A in the TGFB1 Gene Promoter Causing a Decreased Expression Level. Sci Rep 6:29572.
- Oueslati S et al. (2015) Association of TGFB1 -509C/T polymorphism gene with clinical variability in cystic fibrosis patients: A case-control study. Pathol Biol (Paris) 63(4-5):175-178.