TGFB3 : transforming growth factor beta 3
Description
The TGFB3 (transforming growth factor beta 3) is a protein-coding gene located on chromosome 14.
The TGFB3 gene provides instructions for producing a protein called transforming growth factor beta-3 (TGFβ-3). This protein is found throughout the body and is required for development before birth and throughout life. To carry out its functions, TGFβ-3 attaches (binds) to receptor proteins on the surface of cells. This binding triggers the transmission of signals within the cell, controlling various cellular activities. As part of a signaling pathway, called the TGF-β pathway, the TGFβ-3 protein helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and controlled cell death (apoptosis). Because the TGFβ-3 protein keeps cells from growing and dividing too rapidly or in an uncontrolled way, it can suppress the formation of tumors. The TGFβ-3 protein is especially abundant in tissues that develop into the muscles used for movement (skeletal muscles), and plays a key role in their development. The protein is also involved in the formation of blood vessels, regulation of bone growth, wound healing, and immune system function.
The TGFB3 gene encodes a precursor protein that is cleaved into two subunits: Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3). These subunits act as the regulatory and active components of TGF-beta-3, respectively.
TGFB3 is also known as ARVD, ARVD1, LDS5, RNHF, TGF-beta3.
Associated Diseases
- Arrhythmogenic right ventricular dysplasia, familial, 1
- Loeys-Dietz syndrome
- Familial thoracic aortic aneurysm and aortic dissection
- Loeys-Dietz syndrome 5
- Arrhythmogenic right ventricular cardiomyopathy
