phosphodiesterase 6C

Normal function

The PDE6C gene provides instructions for making one part (called the alpha-prime subunit) of an enzyme called cone-specific phosphodiesterase. This enzyme is found exclusively in light-detecting (photoreceptor) cells called cones, which are located in a specialized tissue at the back of the eye known as the retina. Cones provide vision in bright light (daylight vision), including colour vision. Other photoreceptor cells, called rods, provide vision in low light (night vision).

When light enters the eye, it stimulates specialized pigments in photoreceptor cells. This stimulation triggers a series of chemical reactions that produce an electrical signal, which is interpreted by the brain as vision. This process is called phototransduction. Cone-specific phosphodiesterase carries out one of the reactions in this process. Specifically, the enzyme converts a molecule called cGMP to another molecule, 5'-GMP, in cones. This conversion causes certain channels on the cell membrane to close. The closing of these channels triggers the transmission of visual signals to the brain.

Conditions referring to this gene or chromosome

• Achromatopsia

• Cone-rod dystrophy

Other names

ACHM5

cGMP phosphodiesterase 6C

COD4

cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'

PDEA2

phosphodiesterase 6C, cGMP-specific, cone, alpha prime