PDE6H
Domain
The C-terminal region is important in conferring inhibition.
Function
Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones.
Involvement in disease
Cone dystrophy, retinal 3A
RCD3A
A rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the rod/cone cGMP-PDE gamma subunit family.
Alternative names
GMP-PDE gamma, PDE6H