Aliases for PDE6H Gene
External Ids for PDE6H Gene
Previous GeneCards Identifiers for PDE6H Gene
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]
GeneCards Summary for PDE6H Gene
PDE6H (Phosphodiesterase 6H) is a Protein Coding gene. Diseases associated with PDE6H include Retinal Cone Dystrophy 3A and Achromatopsia. Among its related pathways are Pyrimidine metabolism (KEGG) and Phototransduction. Gene Ontology (GO) annotations related to this gene include enzyme inhibitor activity and cGMP binding. An important paralog of this gene is PDE6G.
UniProtKB/Swiss-Prot for PDE6H Gene
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.
Phosphodiesterases (PDEs) are a family of phosphohydrolyases that catalyze the hydrolysis of 3' cyclic phosphate bonds in adenosine and/or guanine 3',5' cyclic monophosphate (cAMP and/or cGMP). PDEs regulate the second messengers by controlling their degradation.