The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Function:
Plays a role in the formation of the epithelial barriers. The separation of the endolymphatic and perilymphatic spaces of the organ of Corti from one another by epithelial barriers is required for normal hearing.
Subcellular Location:
Cell membrane; Multi-pass membrane protein. Cell junction, tight junction. Note=Found at tricellular contacts.
DISEASE:
Deafness, autosomal recessive, 49 (DFNB49) [MIM:610153]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Contains 1 MARVEL domain.
SWISS:
Q8N4S9
Gene ID:
153562
Database links:
Entrez Gene: 461831 Chimpanzee
Entrez Gene: 10125696 Gorilla
Entrez Gene: 153562 Human
Entrez Gene: 100173144 Orangutan
Entrez Gene: 100511284 Pig
Entrez Gene: 365657 Rat
Omim: 610572 Human
SwissProt: Q8N4S9 Human
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