PDE6B, Official Symbol PDE6Bprovided by HGNC Official Full Name phosphodiesterase 6Bprovided by HGNC Primary source HGNC:HGNC:8786 See related Ensembl:ENSG00000133256 MIM:180072; AllianceGenome:HGNC:8786 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as rd1; PDEB; RP40; CSNB3; CSNBAD2; GMP-PDEbeta Summary 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] Expression Broad expression in brain (RPKM 2.0), thyroid (RPKM 1.1) and 19 other tissues See more Orthologs mouse all