Summary
Performance
Immunogen
Application
Background
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 arrhythmogenicdisease:Defects in TGFB3 are a cause of familial arrhythmogenic right ventricular dysplasia 1 (ARVD1) [MIM:107970]; also known as arrhythmogenic right ventricular cardiomyopathy 1 (ARVC1). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall.,function:Involved in embryogenesis and cell differentiation.,online information:TGF beta-3 entry,similarity:Belongs to the TGF-beta family.,subunit:Homodimer; disulfide-linked.,
Research Area
MAPK_ERK_Growth;MAPK_G_Protein;Cytokine-cytokine receptor interaction;Cell_Cycle_G1S;Cell_Cycle_G2M_DNA;TGF-beta;Intestinal immune network for IgA production;Pathways in cancer;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Chronic myeloid leukemia;Hypertrophic cardiomyopathy (HCM);Dilated cardiomyopathy;
