EFNA1
EFNA1 is a gene that encodes the Ephrin-A1 protein in humans. Ephrin-A1 is a member of the Ephrin family, which plays a crucial role in the regulation of cell adhesion, growth, and differentiation. The EFNA1 gene is located on the short (p) arm of chromosome 1 at position 22.
Function[edit | edit source]
The EFNA1 gene provides instructions for making a protein called Ephrin-A1. 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 during embryonic development and tissue maintenance.
Clinical significance[edit | edit source]
Mutations in the EFNA1 gene have been associated with various diseases. For instance, overexpression of EFNA1 has been observed in several types of cancer, including breast cancer, lung cancer, and colorectal cancer. This overexpression is thought to promote tumor growth and metastasis. Conversely, reduced expression of EFNA1 has been linked to rheumatoid arthritis and other autoimmune diseases.
Research[edit | edit source]
Research on EFNA1 is ongoing, with scientists seeking to understand its role in health and disease. Studies are also exploring the potential of targeting EFNA1 in therapeutic strategies for cancer and autoimmune diseases.
See also[edit | edit source]
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Contributors: Prab R. Tumpati, MD
