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A description of two novel OTOA mutations that were discovered in three consanguineous Pakistani families segregating autosomal recessive non-syndromic hearing impairment.
Large deletions in OTOA gene is associated with hearing loss.
Otoancorin is defective in autosomal recessive deafness DFNB22
The protein encoded by this gene 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.
, cancer/testis antigen 108