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OTOA is specifically expressed in the inner ear, and is located at the interface between the apical surface of the inner ear sensory epithelia and their overlying acellular gels. It is prposed that this protein is involved in the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells. Mutations in this gene are associated with autosomal recessive deafness type 22 (DFNB22). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Gene Name: | otoancorin |
Synonyms: | OTOA, Cancer/testis antigen 108, CT108, DFNB22, Otoancorin |
Target Sequences: | NM_001161683 NP_001155155.1 Q7RTW8 |
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