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TMIE

TMIE

Reviewed November 2006

What is the official name of the TMIE gene?

The official name of this gene is “transmembrane inner ear.”

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

The TMIE gene provides instructions for making a protein called the transmembrane inner ear protein. Although the function of this protein is unknown, it appears to be important for normal hearing. Some studies have indicated that the protein may play a role in the development of hairlike projections called stereocilia in the inner ear. Stereocilia bend in response to sound waves, and this bending motion triggers a series of reactions that convert sound to nerve impulses. The transmembrane inner ear protein also may be necessary for the normal function of the auditory nerve, which transmits nerve impulses from the inner ear to the brain to allow the perception of sound.

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

nonsyndromic deafness - caused by mutations in the TMIE gene

At least five mutations in the TMIE gene have been identified in families with a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body) called DFNB6. Several of these genetic changes alter a single DNA building block (nucleotide) in the TMIE gene. Other mutations insert or delete a small amount of DNA in the gene. Researchers have not determined how these mutations lead to hearing loss.

Where is the TMIE gene located?

Cytogenetic Location: 3p21

Molecular Location on chromosome 3: base pairs 46,693,850 to 46,710,922

The TMIE gene is located on the short (p) arm of chromosome 3 at position 21.

The TMIE gene is located on the short (p) arm of chromosome 3 at position 21.

More precisely, the TMIE gene is located from base pair 46,693,850 to base pair 46,710,922 on chromosome 3.

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

Where can I find additional information about TMIE?

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

  • deafness, autosomal recessive 6
  • DFNB6
  • TMIE_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 TMIE?

auditory ; auditory nerve ; autosomal ; autosomal recessive ; DNA ; gene ; nucleotide ; perception ; protein ; recessive ; transmembrane

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

See also Understanding Medical Terminology.

References (4 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: July 7, 2014