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DFNA5
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DFNA5

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Reviewed November 2006

What is the official name of the DFNA5 gene?

The official name of this gene is “deafness, autosomal dominant 5.”

DFNA5 is the gene's official symbol. The DFNA5 gene is also known by other names, listed below.

What is the normal function of the DFNA5 gene?

The DFNA5 gene provides instructions for producing the DFNA5 protein, which appears to be important for normal hearing. Researchers believe that this protein plays a role in the development and maintenance of the cochlea, a snail-shaped structure in the inner ear that converts sound waves into nerve impulses. The specific function of this protein is not known, however.

How are changes in the DFNA5 gene related to health conditions?

nonsyndromic deafness - caused by mutations in the DFNA5 gene

At least three mutations in the DFNA5 gene have been identified in a small number of families with nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body) called DFNA5. These mutations cause an abnormally shortened version of the DFNA5 protein to be made. Families affected by mutations in this gene experience progressive hearing loss that resembles age-related hearing loss (presbyacusis). Generally, hearing loss begins at an earlier age in people with DFNA5 mutations compared to people without a DFNA5 mutation.

Where is the DFNA5 gene located?

Cytogenetic Location: 7p15

Molecular Location on chromosome 7: base pairs 24,704,499 to 24,763,887

The DFNA5 gene is located on the short (p) arm of chromosome 7 at position 15.

The DFNA5 gene is located on the short (p) arm of chromosome 7 at position 15.

More precisely, the DFNA5 gene is located from base pair 24,704,499 to base pair 24,763,887 on chromosome 7.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about DFNA5?

You and your healthcare professional may find the following resources about DFNA5 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 DFNA5 gene or gene products?

  • deafness, autosomal dominant 5 protein
  • DFNA5_HUMAN
  • ICERE-1
  • Inversely correlated with estrogen receptor expression 1
  • nonsyndromic hearing impairment protein

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 DFNA5?

age-related hearing loss ; autosomal ; autosomal dominant ; cochlea ; gene ; mutation ; presbyacusis ; protein ; receptor ; sign ; symptom

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

See also Understanding Medical Terminology.

References (7 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.

 
Reviewed: November 2006
Published: November 20, 2009