TECTB
TECTB is a gene that encodes the protein Tectorin Beta in humans. This protein is an integral part of the tectorial membrane, a structure in the inner ear that plays a crucial role in the process of hearing.
Function[edit | edit source]
The TECTB gene provides instructions for making a protein called tectorin beta. This protein is one of the major non-collagenous components of the tectorial membrane, a structure in the inner ear that is essential for normal hearing. The tectorial membrane is attached to the organ of Corti, the sensory epithelium of the cochlea (the spiral-shaped cavity of the inner ear). The tectorial membrane vibrates in response to sound waves, which stimulates sensory cells in the organ of Corti and triggers nerve impulses that are sent to the brain and interpreted as sound.
Clinical significance[edit | edit source]
Mutations in the TECTB gene can lead to autosomal dominant non-syndromic sensorineural deafness type 21 (DFNA21). This is a form of hearing loss that affects the inner ear. Symptoms of DFNA21 include progressive, postlingual, high-frequency, sensorineural hearing impairment.
Genetics[edit | edit source]
The TECTB gene is located on the short (p) arm of chromosome 9 at position 22.3, from base pair 19,758,764 to base pair 19,764,667.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD