background:
Otoancorin, also known as OTOA, CT108 or DFNB22, is a 1,153 amino acid protein belonging to the stereocilin family. Expressed in the inner ear and restricted to the interface between the apical surface of sensory epithelia, otoancorin is suggested to act as an adhesion molecule. Otoancorin ensures the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells. Mutations in the gene encoding otoancorin leads to deafness autosomal recessive type 22 (DFNB22), which is a form of 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. Existing as three alternatively spliced isoforms, otoancorin is encoded by a gene located on human chromosome 16p12.2.
Function:
May act as an adhesion molecule.
Subcellular Location:
Apical cell membrane. Secreted > extracellular space > extracellular matrix. At the interface between the apical surface of the epithelia and the overlying acellular gel of the tectorial and otoconial membranes.
DISEASE:
Defects in OTOA are the cause of deafness autosomal recessive type 22 (DFNB22) [MIM:607039]. DFNB22 is a form of 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.
Similarity:
Belongs to the stereocilin family.
Database links:
Entrez Gene: 146183 Human
Entrez Gene: 246190 Mouse
Omim: 607038 Human
SwissProt: Q7RTW8 Human
SwissProt: Q8K561 Mouse
Unigene: 408336 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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