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Reviewed November 2006
What is the official name of the ESPN gene?
The official name of this gene is “espin.”
ESPN is the gene's official symbol. The ESPN gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
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. Like stereocilia in the inner ear, microvilli contain a large amount of actin.
Does the ESPN gene share characteristics with other genes?
The ESPN gene belongs to a family of genes called ANKRD (ankyrin repeat domain containing).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the ESPN gene related to health conditions?
Where is the ESPN gene located?
Cytogenetic Location: 1p36.31
Molecular Location on chromosome 1: base pairs 6,424,776 to 6,460,944
The ESPN gene is located on the short (p) arm of chromosome 1 at position 36.31.
More precisely, the ESPN gene is located from base pair 6,424,776 to base pair 6,460,944 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ESPN?
You and your healthcare professional may find the following resources about ESPN helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the ESPN gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding ESPN?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (5 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.