PDE6

Phosphodiesterase 6 (PDE6) is a protein that in humans is encoded by the PDE6 gene. It is a member of the phosphodiesterase family of proteins, which play a crucial role in cellular processes and signal transduction.

Function

PDE6 is a key enzyme involved in the phototransduction pathway, a process that converts light signals into electrical signals in the retina of the eye. It is responsible for the hydrolysis of cyclic guanosine monophosphate (cGMP), a second messenger molecule that transmits the light signal.

Structure

PDE6 is a heterotetramer composed of two alpha subunits, one beta subunit, and one gamma subunit. Each subunit has a distinct function and contributes to the overall activity of the enzyme. The alpha and beta subunits contain the catalytic domain, while the gamma subunit acts as an inhibitory subunit that regulates the activity of the enzyme.

Clinical significance

Mutations in the PDE6 gene can lead to various forms of retinal degeneration, including retinitis pigmentosa and congenital stationary night blindness. These conditions are characterized by progressive vision loss and night blindness.

Research

Research into PDE6 has potential implications for the development of new treatments for retinal degenerative diseases. Inhibitors of PDE6 have been investigated for their potential use in treating these conditions.

File:PDE6.jpg

Structure of PDE6.

See also

• Phosphodiesterase
• Phototransduction
• Retinitis pigmentosa
• Congenital stationary night blindness