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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

ESPN

The information on this page was automatically extracted from online scientific databases.

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?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/83715):

This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009]

From UniProt (ESPN_HUMAN) (http://www.uniprot.org/uniprot/B1AK53):

Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimensions, dynamics and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in variouS mechanosensory and chemosensory cells.

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

Genetics Home Reference provides information about nonsyndromic hearing loss, which is associated with changes in the ESPN gene.
UniProt (ESPN_HUMAN) (http://www.uniprot.org/uniprot/B1AK53) provides the following information about the ESPN gene's known or predicted involvement in human disease.

Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB36 is characterized by prelingual, profound hearing loss, and vestibular areflexia in some patients. The disease is caused by mutations affecting the gene represented in this entry.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/83715) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the ESPN gene.
  • Deafness, autosomal recessive 36, with or without vestibular involvement
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the ESPN gene and its association with health conditions.
OMIM
Number
Title

Where is the ESPN gene located?

Cytogenetic Location: 1p36.31

Molecular Location on chromosome 1: base pairs 6,424,776 to 6,460,944

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/83715))

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 6,424,776 to base pair 6,460,944 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?

  • DFNB36
  • LP2654

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 ; autosomal ; autosomal dominant ; autosomal recessive ; gene ; mediate ; microvillus ; prelingual ; protein ; recessive ; sensorineural ; sensorineural hearing loss ; transduction

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

 

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.

 
Published: February 8, 2016