Gene Symbol | TMIE |
Entrez Gene ID | 259236 |
Full Name | transmembrane inner ear |
Synonyms | DFNB6 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Deafness, autosomal recessive 6, 600971 (3) |