RP1

Description

The RP1 gene provides instructions for making a protein called RP1. This protein is found in the outer segment of photoreceptor cells in the retina, which are responsible for converting light into signals that the brain can interpret. Mutations in the RP1 gene can lead to a range of vision problems, including retinitis pigmentosa (RP), a group of inherited eye diseases that cause progressive vision loss. RP1 plays a crucial role in the structural integrity of photoreceptor cells and their ability to capture light. Mutations in RP1 can disrupt the function of these cells, leading to their eventual degeneration and vision loss.

Associated Diseases

• Retinitis Pigmentosa (RP)
• Congenital Stationary Night Blindness (CSNB)
• Retinal Detachment
• Macular Degeneration

Did you know?

Mutations in the RP1 gene are a common cause of retinitis pigmentosa, accounting for approximately 5-10% of all cases.