GNAT1 : G protein subunit alpha transducin 1
Description
The GNAT1 gene provides instructions for making a protein called alpha transducin 1. This protein is a crucial component of the phototransduction cascade, the process by which light is converted into electrical signals in the retina. Located in the rod photoreceptor cells, alpha transducin 1 acts as a molecular switch, mediating the activation of phosphodiesterase, an enzyme responsible for breaking down cyclic GMP (cGMP). This intricate signaling pathway ultimately leads to the generation of nerve impulses that travel to the brain, allowing us to see.
Associated Diseases
Did you know?
Mutations in the GNAT1 gene are responsible for a rare autosomal dominant form of retinitis pigmentosa, a group of inherited eye diseases that lead to progressive vision loss.
