GUCY2D : guanylate cyclase 2D, retinal

Description

The GUCY2D gene encodes for guanylate cyclase 2D, a crucial enzyme in the visual pathway. Located in the retina, GUCY2D is responsible for producing cyclic GMP (cGMP), a signaling molecule vital for light detection. When light strikes the retina, it triggers a cascade of events, including the activation of GUCY2D. This leads to an increase in cGMP levels, ultimately resulting in a signal being sent to the brain for visual processing. Variations in the GUCY2D gene can disrupt this intricate process, leading to various eye disorders.

Associated Diseases

• Retinitis pigmentosa (RP)
• Cone-rod dystrophy
• Leber congenital amaurosis (LCA)
• Macular degeneration
• Color blindness

Did you know?

Mutations in GUCY2D are responsible for approximately 10% of all cases of retinitis pigmentosa, a leading cause of blindness.