GDF1

GDF1

Symbol	GDF1
HGNC ID	4217
Alternative symbols	–
Entrez Gene	2657
OMIM	602880
RefSeq	NM_001492
UniProt	P27539
Chromosome	19p13.11
Locus supplementary data	–

GDF1 (Growth Differentiation Factor 1) is a protein that in humans is encoded by the GDF1 gene. It is a member of the transforming growth factor beta (TGF-β) superfamily, which is involved in the regulation of cell growth and differentiation in both embryonic and adult tissues.

Function

GDF1 is known to play a critical role in embryonic development, particularly in the formation of the left-right asymmetry of the body. It is involved in the nodal signaling pathway, which is essential for the proper development of the heart, brain, and other organs.

Clinical Significance

Mutations in the GDF1 gene have been associated with several congenital heart defects, including transposition of the great arteries, double outlet right ventricle, and ventricular septal defect. These conditions are part of a group of disorders known as congenital heart disease.

Interactions

GDF1 interacts with other proteins in the TGF-β superfamily, such as Nodal, to mediate its effects on cell differentiation and development. It also interacts with receptors on the cell surface to initiate intracellular signaling cascades.

Research

Research on GDF1 continues to explore its role in developmental biology and its potential implications in genetic disorders. Studies are also investigating its function in adult tissue homeostasis and regeneration.

See Also

• Growth Differentiation Factor
• TGF-beta signaling pathway
• Congenital heart disease

External Links

• GDF1 Gene - NCBI
• GDF1 Protein - UniProt