GUCY2F

GUCY2F is a gene that encodes the protein Guanylate Cyclase 2F in humans. This protein is a part of the guanylate cyclase family, which is a group of enzymes involved in the production of the secondary messenger molecule cyclic guanosine monophosphate (cGMP).

Function

The protein encoded by the GUCY2F gene is a retina-specific guanylate cyclase, which is a key component of the phototransduction pathway in the retina. It is involved in converting the light signal into an electrical signal that can be processed by the brain. This protein is expressed in the outer segments of photoreceptor cells and is activated by the interaction with guanylate cyclase-activating proteins (GCAPs) in response to light-induced decrease in the intracellular concentration of calcium ions (calcium).

Clinical significance

Mutations in the GUCY2F gene have been associated with retinitis pigmentosa, a group of genetic disorders that lead to the breakdown and loss of cells in the retina. This can cause symptoms such as difficulty seeing at night and a loss of peripheral vision.

See also

• Guanylate cyclase
• Retinitis pigmentosa
• Phototransduction

External links

• GUCY2F at the National Center for Biotechnology Information