The TGFB3 gene (TGFB3 stands for Transforming Growth Factor Beta 3) is a protein-coding gene located on chromosome 14q24.3. An important paralog of this gene is TGFB2.
TGFB3 gene
DefinitionThis section has been translated automatically.
General informationThis section has been translated automatically.
The TGFB3 gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors, which leads to the recruitment and activation of transcription factors of the SMAD family that regulate gene expression. The encoded preprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and 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 solely of the mature peptide homodimer. The mature peptide can also form heterodimers with other members of the TGF-beta family.
The protein is involved in embryogenesis and cell differentiation and may play a role in wound healing.
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Diseases associated with TGFB3 include:
- Loeys-Dietz syndrome
- and
- familial arrhythmogenic right ventricular dysplasia
TGFB3 polymorphisms are associated with male infertility (Droździk M et al. 2015)
LiteratureThis section has been translated automatically.
- Droździk M et al. (2015) TGFβ3 (TGFB3) polymorphism is associated with male infertility. Sci Rep. 5:17151.
- Sun T et al. (2021) TGFβ2 and TGFβ3 isoforms drive fibrotic disease pathogenesis. Sci Transl Med. 13:eabe0407.