PDE6H : phosphodiesterase 6H


Description

The PDE6H (phosphodiesterase 6H) is a protein-coding gene located on chromosome 12.

The PDE6H gene provides instructions for creating the inhibitory gamma subunit of cone-specific phosphodiesterase. This enzyme is found exclusively in cones, which are photoreceptor cells in the retina responsible for daylight and color vision. When light enters the eye, it stimulates pigments in photoreceptor cells, initiating a series of chemical reactions that ultimately produce an electrical signal interpreted by the brain as vision. Cone-specific phosphodiesterase plays a role in this process, known as phototransduction. Specifically, it converts cGMP to 5'-GMP in cones, causing channels on the cell membrane to close and triggering the transmission of visual signals to the brain.

PDE6H plays a crucial role in visual signal transmission and amplification. It is part of the cGMP-PDE complex, which acts as the effector molecule in the G-protein-mediated phototransduction pathway in vertebrate cones.

PDE6H is also known as ACHM6, RCD3.

Associated Diseases


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