RP1L1
Description
The RP1L1 gene holds a crucial role in maintaining healthy vision. It provides instructions for creating a protein that is vital for the proper function of photoreceptor cells in the retina, which are responsible for light detection. These cells convert light into electrical signals that are transmitted to the brain, enabling us to see. Mutations in the RP1L1 gene can disrupt this process, leading to various eye conditions, including retinitis pigmentosa (RP), a group of inherited disorders that cause progressive vision loss.
Associated Diseases
Did you know?
Mutations in RP1L1 are a leading cause of inherited retinal dystrophies, affecting millions worldwide.
