USH1C

USH1C

USH1C is a gene that encodes the protein harmonin, which is involved in the function of hair cells in the inner ear. Mutations in this gene are associated with Usher syndrome, a condition characterized by partial or total hearing loss and vision loss.

Function

The USH1C gene provides instructions for making a protein called harmonin. Harmonin is part of a group of proteins that are important for the development and maintenance of hair cells in the inner ear. These cells are essential for converting sound waves into electrical signals that are interpreted by the brain as sound, a process known as mechanoelectrical transduction.

Diagram of mechanoelectrical transduction in hair cells.

Harmonin is thought to play a role in the organization of the hair cell's stereocilia, which are hair-like projections that are crucial for hearing. It interacts with other proteins to form a complex that helps maintain the structure and function of these cells.

Clinical Significance

Mutations in the USH1C gene are known to cause Usher syndrome type 1C, a form of Usher syndrome that is particularly prevalent in the Acadian population of Louisiana. This condition is characterized by profound congenital deafness, progressive vision loss due to retinitis pigmentosa, and balance problems.

Research

Research into USH1C and its associated protein harmonin is ongoing, with studies focusing on understanding the precise mechanisms by which mutations lead to the symptoms of Usher syndrome. There is also interest in developing gene therapy approaches to correct these mutations and restore function.

Related Pages

• Usher syndrome
• Hearing loss
• Retinitis pigmentosa
• Inner ear

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USH1C

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