Aliases for PDE6A Gene
External Ids for PDE6A Gene
Previous HGNC Symbols for PDE6A Gene
Previous GeneCards Identifiers for PDE6A Gene
This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]
GeneCards Summary for PDE6A Gene
PDE6A (Phosphodiesterase 6A) is a Protein Coding gene. Diseases associated with PDE6A include Retinitis Pigmentosa 43 and Pde6a-Related Retinitis Pigmentosa. Among its related pathways are Phototransduction and Signaling by Wnt. 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 PDE6B.
UniProtKB/Swiss-Prot for PDE6A Gene
This protein participates in processes of transmission and amplification of the visual signal.
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.