Transmembrane Inner Ear (TMIE)

TMIE encodes a transmembrane inner ear protein. 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.

TMIE gene is expressed in many human tissues and encodes a transcript of approximately 2.5 kb. Repeated RACE experiments on cDNA from human retina and various other tissues yielded an approximately 1.7-kb transcript; no other TMIE transcripts were identified. Sequence analysis predicted an intracellular N terminus, 2 transmembrane regions separated by an extracellular loop, and an intracellular C terminus.