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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.
This gene encodes a transmembrane inner ear protein. Studies in mouse suggest that this gene is required for normal postnatal maturation of sensory hair cells in the cochlea, including correct development of stereocilia bundles. This gene is one of multiple genes responsible for recessive non-syndromic deafness (DFNB), also known as autosomal recessive nonsyndromic hearing loss (ARNSHL), the most common form of congenitally acquired inherited hearing impairment. [provided by RefSeq, Mar 2009]
Unknown. The protein may play some role in a cellular membrane location. May reside within an internal membrane compartment and function in pathways such as those involved in protein and/or vesicle trafficking. Alternatively, the mature protein may be localized in the plasma membrane and serve as a site of interaction for other molecules through its highly charged C-terminal domain.
Deafness, autosomal recessive, 6 (DFNB6): 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. The disease is caused by mutations affecting the gene represented in this entry.
|600971 (http://omim.org/entry/600971)||DEAFNESS, AUTOSOMAL RECESSIVE 6|
|607237 (http://omim.org/entry/607237)||TRANSMEMBRANE INNER EAR-EXPRESSED GENE|
Cytogenetic Location: 3p21
Molecular Location on chromosome 3: base pairs 46,693,842 to 46,710,923
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 46,693,842 to base pair 46,710,923 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.
autosomal ; autosomal recessive ; cochlea ; domain ; gene ; hair cells ; inherited ; plasma ; plasma membrane ; protein ; recessive ; sensorineural ; sensorineural hearing loss ; transmembrane ; vesicle
You may find definitions for these and many other terms in the Genetics Home Reference 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.