Official Full Name
Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta DNA.
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.
PDE6B; phosphodiesterase 6B, cGMP-specific, rod, beta; PDEB; rod cGMP-specific 3,5-cyclic phosphodiesterase subunit beta; congenital stationary night blindness 3; autosomal dominant; CSNB3; rd1; RP40; GMP-PDE beta; rod cGMP-phosphodiesterase beta-subunit; CSNBAD2