PDE6B : phosphodiesterase 6B

Description

The PDE6B gene provides instructions for making a protein called phosphodiesterase 6B, a crucial enzyme in the phototransduction cascade, the process by which light is converted into a signal that the brain can interpret. PDE6B is specifically found in rod photoreceptor cells, which are responsible for vision in dim light. This protein plays a critical role in shutting off the signal from light, allowing for rapid and efficient processing of visual information. Mutations in the PDE6B gene can lead to various eye disorders, highlighting its importance in maintaining healthy vision.

Associated Diseases

• Retinitis Pigmentosa (RP)
• Congenital Stationary Night Blindness (CSNB)
• Other inherited retinal dystrophies

Did you know?

PDE6B is a prime target for drug development for the treatment of retinal diseases, as its activity can be modulated by specific inhibitors.