DEAF1

Description

The DEAF1 gene, also known as 'Deafness, autosomal dominant 1', plays a crucial role in hearing and development. It encodes a protein that is essential for the proper formation and function of the inner ear. Mutations in DEAF1 can lead to hearing loss, often in a dominant pattern, meaning that even one copy of the mutated gene can cause the condition. This gene also influences various developmental processes, impacting the formation of other organs besides the ear. Understanding DEAF1's function is critical for developing effective treatments and genetic counseling for individuals with hearing loss.

Associated Diseases

• Autosomal Dominant Hearing Loss
• Congenital Hearing Loss
• Syndromic Hearing Loss
• Sensorineural Hearing Loss
• Cochlear Dysplasia

Did you know?

The DEAF1 gene is also expressed in the brain, suggesting a potential role in other neurological functions beyond hearing.