OTOA
Description
The OTOA (otoancorin) is a protein-coding gene located on chromosome 16.
Otoancorin is a protein found in the inner ear of vertebrates, specifically on the sensory epithelia where it connects to the gel matrix. It is present in the cochlea, utricule, saccule, and under the cupulae on the surface of apical cells in the sensory epithelia. The gene responsible for encoding otoancorin in humans is called OTOA, located on chromosome 16p12.2 and composed of 28 exons. Mutations in OTOA, such as the recessive IVS12+2T>C mutation, can lead to deafness. The human otoancorin protein contains 1,153 amino acids, while the mouse version has 1,088 amino acids. In mice, otoancorin is crucial for attaching the tectorial membrane to the inner hair cells of the cochlea.
OTOA is also known as CT108, DFNB22.
