NODAL

NODAL is a protein that in humans is encoded by the NODAL gene. NODAL is a member of the transforming growth factor beta (TGFβ) superfamily of secreted proteins, which are involved in a wide range of biological processes including cell growth, cell differentiation, apoptosis, cellular homeostasis and other cellular functions.

Function

NODAL plays crucial roles in embryogenesis and organogenesis. It is particularly important in the formation of the anterior-posterior axis and the development of left-right asymmetry. In addition, NODAL signaling is involved in the maintenance of pluripotency in human embryonic stem cells.

Structure

The NODAL protein is a dimer that is processed from a precursor protein. The mature form of the protein contains a cysteine knot motif, which is a characteristic feature of the TGFβ superfamily.

Clinical significance

Mutations in the NODAL gene have been associated with several diseases, including heterotaxy, a condition characterized by randomization of the left-right body axis, and congenital heart defects. In addition, aberrant NODAL signaling has been implicated in the progression of certain types of cancer, including breast cancer and melanoma.

See also

• Transforming growth factor beta
• Left-right asymmetry
• Heterotaxy
• Congenital heart defect

References

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