関連疾患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.
配列類似性Belongs to the stereocilin family.
細胞内局在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.