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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.
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.
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.
Cytogenetic Location: 3p21
Molecular Location on chromosome 3: base pairs 46,742,822 to 46,752,412
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 46,742,822 to base pair 46,752,412 on chromosome 3.
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 TMIE 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.
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 (http://www.ghr.nlm.nih.gov/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.