Aliases for PDE6B Gene
External Ids for PDE6B Gene
Previous HGNC Symbols for PDE6B Gene
Previous GeneCards Identifiers for PDE6B Gene
Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
GeneCards Summary for PDE6B Gene
PDE6B (Phosphodiesterase 6B) is a Protein Coding gene. Diseases associated with PDE6B include Night Blindness, Congenital Stationary, Autosomal Dominant 2 and Retinitis Pigmentosa-40. Among its related pathways are Metabolism of fat-soluble vitamins and Phototransduction. 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 PDE6B Gene
This protein participates in processes of transmission and amplification of the visual signal. Necessary for the formation of a functional phosphodiesterase holoenzyme.
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.