The GUCY2D gene provides instructions for making a protein that plays an essential role in normal vision. This protein is found in the retina, which is the specialized tissue at the back of the eye that detects light and color. Within the retina, the GUCY2D protein is located in light-detecting cells called photoreceptors. The retina contains two types of photoreceptor cells: rods and cones. Rods are needed for vision in low light, while cones are needed for vision in bright light, including color vision.
The GUCY2D protein is involved in a process called phototransduction. When light enters the eye, it stimulates specialized pigments called opsins that “hold” a vitamin A molecule in photoreceptor cells. This stimulation triggers a series of chemical reactions that close the open channel in the cell membranes of rod and cone cells. This closure produces an electrical signal, which is then interpreted by the brain as vision.
Once photoreceptors have been stimulated by light, they must return to their resting (or “dark”) state before they can be stimulated again. The GUCY2D protein is involved in a chemical reaction that re-opens the cell membrane channels that helps return photoreceptors to their dark state after light exposure.
Other Names
CORD6; CYGD; guanylate cyclase 2D, membrane (retina-specific); GUC1A4; GUC2D; GUC2D_HUMAN; LCA1; RCD2; retGC; RETGC-1; RETGC1; retinal guanylyl cyclase 1; rod outer segment membrane guanylate cyclase; ROS-GC; ROS-GC1; ROSGC
Related Genetics Topics
Identifiers
- NCBI Gene: 3000
- OMIM: 600179
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
