PDE6H cDNA Clone – Phosphodiesterase 6h, Cgmp-Specific, Cone, Gamma (Human)

This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010]

PDE6H: 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. Defects in PDE6H are the cause of cone dystrophy retinal type 3A (RCD3A); also known as cone dystrophy with night blindness and supernormal rod responses. RCD3A is 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. Belongs to the rod/cone cGMP-PDE gamma subunit family.

Protein type: Phosphodiesterase; EC 3.1.4.35; Inhibitor; Nucleotide Metabolism - purine

Chromosomal Location of Human Ortholog: 12p13

Molecular Function: enzyme inhibitor activity; protein binding

Disease: Retinal Cone Dystrophy 3a