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
Tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma)
The C-terminal region is important in conferring inhibition
An autosomal recessive form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by colorblindness, low visual acuity, photophobia and nystagmus. ACHM6 patients have incomplete loss of color vision, and non-progressive reduced visual acuity.
No mutation information available.
Genes with an experimentally identified or computationally predicted synthetic-lethal relationship to PDE6H, aggregated across our SSL data sources. Click any partner node to view that gene’s page.
Nodes and edges are coloured by the SSL data source. Partners appearing in more than one source are shown in grey.
No clinical trials information available.