TMIE - transmembrane inner ear Gene
Also Known as DFNB6
Species: Homo sapiens
About TMIE
This gene has 3 transcripts (splice variants), 86 orthologues and is associated with 2 phenotypes. Broad expression in adrenal (RPKM 2.0), brain (RPKM 1.3) and 20 other tissues.
Summary
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]
TMIE Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001370524.1 | NP_001357453.1 | transmembrane inner ear expressed protein isoform 2 |
| NM_001370525.1 | NP_001357454.1 | transmembrane inner ear expressed protein isoform 2 |
| NM_147196.3 | NP_671729.2 | transmembrane inner ear expressed protein isoform 1 precursor |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
transmembrane inner ear expressed protein |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Deafness, Autosomal Recessive 6 |
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| Sensorineural Hearing Loss |
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| Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
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| Autosomal Recessive Nonsyndromic Deafness |
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| Deafness, Autosomal Recessive |
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| Deafness, Autosomal Recessive 67 |
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| Deafness, Autosomal Recessive 35 |
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| Deafness, Autosomal Dominant 36 |
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| Deafness, Autosomal Recessive 93 |
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| Deafness, Autosomal Recessive 63 |
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| Y-Linked Deafness |
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| Deafness, Autosomal Recessive 16 |
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| Acute Hemorrhagic Leukoencephalitis |
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| Deafness, Autosomal Recessive 77 |
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| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
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| Deafness, Autosomal Dominant 7 |
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| Deafness, Autosomal Recessive 49 |
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| Deafness, Autosomal Recessive 8 |
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| Deafness, Autosomal Recessive 9 |
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| Deafness, Autosomal Recessive 12 |
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| Auditory System Disease |
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| Waardenburg Syndrome, Type 2a |
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| Waardenburg Syndrome, Type 4c |
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| Autosomal Dominant Nonsyndromic Deafness |
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| Usher Syndrome, Type I |
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| Usher Syndrome |
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