USH1G
Description
The USH1G gene, located on chromosome 10, plays a crucial role in the development of the inner ear and retina. Mutations in this gene are a leading cause of Usher syndrome type 1 (USH1), a debilitating genetic disorder characterized by profound hearing loss, vestibular dysfunction, and progressive vision loss. USH1G encodes for a protein known as SANS, which is involved in the formation and maintenance of the hair cells in the inner ear and the photoreceptor cells in the retina. The protein interacts with other key proteins in these sensory organs, contributing to the complex process of signal transduction.
Associated Diseases
Did you know?
Mutations in the USH1G gene are responsible for approximately 10-20% of all USH1 cases.
