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Genetics Home Reference: your guide to understanding genetic conditions
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ESPN

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.

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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the ESPN gene related to health conditions?

nonsyndromic deafness - caused by mutations in the ESPN gene

At least six mutations in the ESPN gene have been identified in people with a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body) called DFNB36. Several of these mutations cause an autosomal recessive form of nonsyndromic deafness that includes problems with balance. Autosomal recessive inheritance means that two copies of the gene in each cell are altered. These genetic changes delete a small amount of DNA from critical regions of the ESPN gene. Researchers believe that these genetic changes may prevent the production of espin or lead to an abnormally small, nonfunctional version of the protein that cannot bind to actin. A loss of espin function likely disrupts the development, structure, and organization of stereocilia, leading to hearing loss and balance problems.

Other ESPN mutations cause an autosomal dominant form of nonsyndromic hearing loss without obvious balance problems. Autosomal dominant inheritance means that one altered copy of the gene in each cell is sufficient to cause the condition. Most of these mutations alter a single protein building block (amino acid) in espin, which probably changes the structure of the protein. Although researchers have not determined how these mutations lead to hearing loss, they suspect that the altered protein disrupts the growth and organization of stereocilia in the inner ear.

Where is the ESPN gene located?

Cytogenetic Location: 1p36.31

Molecular Location on chromosome 1: base pairs 6,424,775 to 6,460,943

The ESPN gene is located on the short (p) arm of chromosome 1 at position 36.31.

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 6,424,775 to base pair 6,460,943 on chromosome 1.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) 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?

  • deafness, autosomal recessive 36
  • DFNB36
  • LP2654
  • Q5T8W7_HUMAN

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding ESPN?

actin ; amino acid ; autosomal ; autosomal dominant ; autosomal recessive ; cell ; DNA ; gene ; inheritance ; microvilli ; protein ; receptor ; recessive ; sensory cells

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Donaudy F, Zheng L, Ficarella R, Ballana E, Carella M, Melchionda S, Estivill X, Bartles JR, Gasparini P. Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation. J Med Genet. 2006 Feb;43(2):157-61. Epub 2005 Jun 1. (http://www.ncbi.nlm.nih.gov/pubmed/15930085?dopt=Abstract)
  • Naz S, Griffith AJ, Riazuddin S, Hampton LL, Battey JF Jr, Khan SN, Riazuddin S, Wilcox ER, Friedman TB. Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. J Med Genet. 2004 Aug;41(8):591-5. (http://www.ncbi.nlm.nih.gov/pubmed/15286153?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/83715)
  • Sekerková G, Zheng L, Loomis PA, Changyaleket B, Whitlon DS, Mugnaini E, Bartles JR. Espins are multifunctional actin cytoskeletal regulatory proteins in the microvilli of chemosensory and mechanosensory cells. J Neurosci. 2004 Jun 9;24(23):5445-56. (http://www.ncbi.nlm.nih.gov/pubmed/15190118?dopt=Abstract)
  • Sekerková G, Zheng L, Loomis PA, Mugnaini E, Bartles JR. Espins and the actin cytoskeleton of hair cell stereocilia and sensory cell microvilli. Cell Mol Life Sci. 2006 Oct;63(19-20):2329-41. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16909209?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2006
Published: September 29, 2014