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DFNB31

DFNB31

Reviewed November 2006

What is the official name of the DFNB31 gene?

The official name of this gene is “deafness, autosomal recessive 31.”

DFNB31 is the gene's official symbol. The DFNB31 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 DFNB31 gene?

The DFNB31 gene provides instructions for making a protein called whirlin. Whirlin belongs to a group of proteins that have specialized regions called PDZ domains. PDZ domains are sites of protein-protein interactions that are important for normal cell functions.

Whirlin is made in several types of cells, but it has been best studied in cells from the inner ear and the light-sensitive tissue at the back of the eye (the retina). In the inner ear, it appears that whirlin is needed for normal hearing. Hearing requires the conversion of sound waves to nerve impulses that are transmitted via the auditory nerve to the brain. Researchers suggest that whirlin plays an important role in the development and maintenance of stereocilia, the hairlike structures that project from specialized cells called hair cells. Stereocilia line the inner ear and bend in response to sound waves. This bending motion is critical for converting sound waves to nerve impulses. In the retina, whirlin's function is not well understood. Research findings indicate that it may be important in the development and function of photoreceptor cells, which detect light and color.

How are changes in the DFNB31 gene related to health conditions?

nonsyndromic deafness - caused by mutations in the DFNB31 gene

Researchers have identified two mutations in the DFNB31 gene that cause a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body). These mutations introduce a premature stop signal in the instructions for making whirlin. As a result, no protein is produced, or an abnormally small protein that is missing a PDZ domain is made. The abnormal whirlin protein or the absence of whirlin probably impairs the function of stereocilia, leading to hearing loss.

Where is the DFNB31 gene located?

Cytogenetic Location: 9q32

Molecular Location on chromosome 9: base pairs 114,402,079 to 114,505,508

The DFNB31 gene is located on the long (q) arm of chromosome 9 at position 32.

The DFNB31 gene is located on the long (q) arm of chromosome 9 at position 32.

More precisely, the DFNB31 gene is located from base pair 114,402,079 to base pair 114,505,508 on chromosome 9.

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

Where can I find additional information about DFNB31?

You and your healthcare professional may find the following resources about DFNB31 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 DFNB31 gene or gene products?

  • cask-interacting protein, 98-KD
  • CIP98
  • DKFZP434N014
  • KIAA1526
  • PDZD7B
  • RP11-9M16.1
  • USH2D
  • WHRN
  • WHRN_HUMAN

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 DFNB31?

auditory ; auditory nerve ; autosomal ; autosomal recessive ; cell ; domain ; gene ; hair cells ; photoreceptor ; protein ; recessive ; retina ; tissue

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

See also Understanding Medical Terminology.

References (6 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: December 16, 2014