Aliases for TGFB3 Gene
External Ids for TGFB3 Gene
Previous HGNC Symbols for TGFB3 Gene
Previous GeneCards Identifiers for TGFB3 Gene
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]
GeneCards Summary for TGFB3 Gene
TGFB3 (Transforming Growth Factor Beta 3) is a Protein Coding gene. Diseases associated with TGFB3 include Loeys-Dietz Syndrome 5 and Arrhythmogenic Right Ventricular Dysplasia 1. Among its related pathways are HTLV-I infection and Activation of cAMP-Dependent PKA. GO annotations related to this gene include identical protein binding and cytokine activity. An important paralog of this gene is TGFB2.
UniProtKB/Swiss-Prot for TGFB3 Gene
Involved in embryogenesis and cell differentiation.