Basic Information
MANE select
Transcripts
| ID | Sequence | Length | GC content |
|---|---|---|---|
| AGCAGUGUGUGUGCAUGUGUGUGUGUGUGAGAGAGAGAGGGAGAGGAGC… | 2283 nt | 0.5296 | |
| GGCUGCUCGUGGGAAAAGGCCUAGAGGUUCGGGCCGAGAAGAGGAGCGA… | 3414 nt | 0.5290 | |
| AGCAGUGUGUGUGCAUGUGUGUGUGUGUGAGAGAGAGAGGGAGAGGAGC… | 3431 nt | 0.5185 |
Summary
This 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 leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed 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 may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016]
Forensic Context
A study in Oncopigs (Sus scrofa) demonstrated that alcohol-induced liver fibrosis resulted in the upregulation of the TGFB3, which promotes hepatic stellate cell activation and hepatocyte cell death [Yasmin et al. DOI:10.1016/J.Biochi.2020.12.022]. In a separate study on monocrotaline-induced right ventricular failure in Sprague-Dawley rats (Rattus norvegicus), the TGFB3 was also found to be upregulated and associated with fibrotic pathways [Potus et al. DOI:10.3390/ijms19092730].