What is the normal function of the ESPN gene?
The ESPN gene provides instructions for making a protein called espin. This protein is active in the inner ear, where it appears to play an essential role in normal hearing and balance. Researchers believe that espin binds to actin, a protein that is important for cell movement and shape. Espin is probably involved in the growth and maintenance of hairlike projections called stereocilia. Stereocilia, which are rich in actin, line the inner ear and bend in response to sound waves. This bending motion is essential for converting sound waves to nerve impulses and for conveying information about the body’s position and movement. Espin may also play a role in other types of sensory cells. Some studies suggest that this protein is present in taste receptor cells, cells involved in recognizing smells, and Merkel cells in the skin, which are associated with the sense of touch. In these cells, espin is located in small, fingerlike structures called microvilli that project from the cell surface.
