MYO3A

Description

The MYO3A gene encodes myosin IIIA, a motor protein crucial for the proper function of hair cells in the inner ear. Myosin IIIA plays a critical role in the stereocilia bundle, which is essential for sound perception. Mutations in the MYO3A gene can lead to a variety of hearing impairments, including deafness, and also affect the function of the retina, potentially causing vision problems. Understanding the intricate workings of the MYO3A gene and its associated disorders is crucial for developing effective treatments and therapies.

Associated Diseases

• Non-syndromic hearing loss
• Usher syndrome type 1B
• Retinitis pigmentosa
• Deafness, autosomal recessive 10
• Deafness, autosomal recessive 32
• Deafness, autosomal recessive 50

Did you know?

MYO3A mutations are responsible for a significant proportion of cases of inherited deafness.