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TMIE

TMIE

The information on this page was automatically extracted from online scientific databases.

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?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProt (TMIE_HUMAN)This link leads to a site outside Genetics Home Reference.:

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.

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

Genetics Home Reference provides information about nonsyndromic hearing loss, which is associated with changes in the TMIE gene.
UniProt (TMIE_HUMAN)This link leads to a site outside Genetics Home Reference. provides the following information about the TMIE gene's known or predicted involvement in human disease.

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.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the TMIE gene.
  • Deafness, autosomal recessive 6
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the TMIE gene and its association with health conditions.
OMIM
Number
Title

Where is the TMIE gene located?

Cytogenetic Location: 3p21

Molecular Location on chromosome 3: base pairs 46,693,842 to 46,710,923

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

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 46,693,842 to base pair 46,710,923 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?

  • DFNB6

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?

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.

See also Understanding Medical Terminology.

 

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.

 
Published: February 8, 2016