Aliases for PDE6C Gene
External Ids for PDE6C Gene
Previous GeneCards Identifiers for PDE6C Gene
This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]
GeneCards Summary for PDE6C Gene
PDE6C (Phosphodiesterase 6C) is a Protein Coding gene. Diseases associated with PDE6C include Cone Dystrophy 4 and Achromatopsia. Among its related pathways are Metabolism of nucleotides and Phototransduction. Gene Ontology (GO) annotations related to this gene include 3',5'-cyclic-nucleotide phosphodiesterase activity and 3',5'-cyclic-GMP phosphodiesterase activity. An important paralog of this gene is PDE6A.
UniProtKB/Swiss-Prot for PDE6C Gene
As cone-specific cGMP phosphodiesterase, it plays an essential role in light detection and cone phototransduction by rapidly decreasing intracellular levels of cGMP.
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.