GDF1

GDF1 or Growth Differentiation Factor 1 is a protein that in humans is encoded by the GDF1 gene. It is a member of the Bone Morphogenetic Protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues.

Function

GDF1 is a secreted protein that acts as a growth factor that plays a crucial role in embryonic development. It is involved in the formation of the left-right axis during organogenesis, particularly in the development of the heart and gastrointestinal tract. Mutations in the GDF1 gene have been associated with various congenital heart defects.

Clinical Significance

Mutations in the GDF1 gene have been linked to several congenital heart diseases, including transposition of the great arteries, double outlet right ventricle, and tetralogy of Fallot. These conditions are often severe and require surgical intervention early in life.

File:GDF1 protein structure.jpg

The structure of the GDF1 protein. Image from Wikimedia Commons.

Research

Research into GDF1 has focused on its role in heart development and its potential use in regenerative medicine. Studies have shown that GDF1 can promote the differentiation of stem cells into cardiomyocytes, which could potentially be used in the treatment of heart disease.

See Also

• Bone Morphogenetic Protein
• TGF-beta
• Congenital heart disease
• Stem cells

References

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