POU3F4

POU3F4 is a gene that provides instructions for making a protein that is involved in the development of the inner ear. This protein is a member of the POU-domain class 3 family of transcription factors, which play a key role in regulating cell growth, differentiation, and development.

Function

The POU3F4 protein is found in the nuclei of cells in the inner ear, where it likely regulates the activity of other genes. The exact function of this protein is not well understood, but it is thought to be essential for the normal development and function of the inner ear.

Genetic changes

Mutations in the POU3F4 gene are associated with X-linked deafness-2 (DFNX2), a form of hearing loss. These mutations often lead to the production of a POU3F4 protein that is missing certain regions, which likely disrupts its ability to regulate the activity of other genes. As a result, the development of the inner ear is impaired, leading to hearing loss.

Clinical significance

Understanding the function of the POU3F4 gene and its associated protein can provide insights into the causes of hearing loss and potential treatments. For example, gene therapy that targets the POU3F4 gene could potentially restore hearing in individuals with DFNX2.

See also

• POU domain
• X-linked deafness
• Gene therapy

References

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