TMIE gene

transmembrane inner ear

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

From NCBI Gene:

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:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal recessive 6

From UniProt:

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. [MIM:600971]

Cytogenetic Location: 3p21, which is the short (p) arm of chromosome 3 at position 21

Molecular Location: base pairs 46,693,800 to 46,710,923 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p21, which is the short (p) arm of chromosome 3 at position 21