EFNA5
EFNA5 is a gene that encodes the ephrin-A5 protein in humans. Ephrin-A5 is a member of the Ephrin family, which plays a crucial role in the regulation of cell adhesion, growth, and migration.
Function[edit | edit source]
The EFNA5 gene provides instructions for making a protein called ephrin-A5. This protein is part of a family of ephrin proteins that are attached to the outer surface of cells and interact with Eph receptors on the surface of neighboring cells. These interactions trigger signaling pathways that influence the organization and function of cells, particularly during embryonic development. Ephrin-A5 and its receptors are involved in the development of the nervous system, including the formation and maintenance of nerve connections.
Clinical significance[edit | edit source]
Mutations in the EFNA5 gene have been associated with several health conditions. For example, alterations in this gene have been linked to cancer, as changes in ephrin-A5 signaling can lead to uncontrolled cell growth and migration, two hallmarks of cancer. Additionally, research suggests that EFNA5 may play a role in the development of Alzheimer's disease, as it is involved in the formation of amyloid plaques, a characteristic feature of this condition.
Research[edit | edit source]
Research on EFNA5 is ongoing, with scientists seeking to better understand its role in health and disease. This research could lead to the development of new treatments for conditions associated with EFNA5 mutations.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD