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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.
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]
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.
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.
|609006 (http://omim.org/entry/609006)||DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT|
|606351 (http://omim.org/entry/606351)||ESPIN, MOUSE, HOMOLOG OF|
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
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.
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