Synonyms: 5''-cyclic phosphodiesterase subunit beta,Congenital stationary night blindness 3 autosomal dominant,CSNB 3,CSNB3,CSNBAD2,GMP PDE beta,GMP-PDE beta,PDE 6 beta,PDE 6B,PDE6B,PDE6B,PDEB,Phosphodiesterase 6B,Phosphodiesterase 6B cGMP specific rod beta,Rd 1,Rd1,Rod cGMP phosphodiesterase beta subunit,Rod cGMP specific 3' 5' cyclic phosphodiesterase beta subunit,Rod cGMP-specific 3'',RP40
Background: 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.