GUCY1A1
Description
The GUCY1A1 gene encodes for Retinal Guanylate Cyclase 1 (RetGC1), a crucial enzyme involved in phototransduction. Located on chromosome 17, GUCY1A1 plays a critical role in the conversion of light into electrical signals in the retina. RetGC1 catalyzes the formation of cyclic GMP (cGMP), a signaling molecule that regulates the opening and closing of ion channels in photoreceptor cells. This process is essential for vision, enabling us to perceive light and distinguish between different shades.
Associated Diseases
Did you know?
Mutations in the GUCY1A1 gene are the most common cause of Leber Congenital Amaurosis, a severe inherited eye disease that leads to blindness.
