GDF2
GDF2 (Growth Differentiation Factor 2), also known as BMP9 (Bone Morphogenetic Protein 9), is a protein that in humans is encoded by the GDF2 gene. It is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. The proteins of this superfamily are highly diverse in function and play crucial roles in a variety of biological processes, including cell growth, differentiation, morphogenesis, development and immune response.
Function[edit | edit source]
GDF2 is 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. GDF2 is involved in the regulation of endothelial cell function. It also plays a crucial role in maintaining vascular integrity.
Clinical significance[edit | edit source]
Mutations in the GDF2 gene have been associated with pulmonary arterial hypertension. GDF2 is also being studied for its potential role in the treatment of liver fibrosis and cancer.
Structure[edit | edit source]
The GDF2 protein is synthesized as a large precursor molecule, which is cleaved to release the mature protein. The mature GDF2 protein is a dimer, composed of two identical subunits that are linked by disulfide bonds.
Expression[edit | edit source]
GDF2 is expressed in a variety of tissues, including the liver, lung, and heart. Its expression is regulated by various factors, including hypoxia and inflammatory cytokines.
See also[edit | edit source]
- Bone morphogenetic protein
- TGF-beta superfamily
- SMAD family
- Pulmonary arterial hypertension
- Liver fibrosis
- Cancer
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD