TMC8

Description

The TMC8 gene provides instructions for making a protein found in the inner ear, specifically in hair cells. These cells are crucial for hearing and balance. They convert sound vibrations into electrical signals that are sent to the brain. TMC8 protein is thought to play a role in the mechanical function of these hair cells, ensuring proper signal transduction. Mutations in the TMC8 gene can disrupt this process, leading to hearing loss and balance disorders.

Associated Diseases

• Autosomal dominant nonsyndromic hearing loss (DFNA36)
• Autosomal recessive nonsyndromic hearing loss (DFNB77)
• Pendred syndrome (PDS)

Did you know?

Mutations in TMC8 are responsible for a significant percentage of inherited hearing loss, highlighting the gene‘s critical role in auditory function.