Full name: phosphodiesterase 6B

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: CSNB3; CSNBAD2; GMP-PDEbeta; PDEB; RP40; rd1

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

Gene size: 45210bp

Exon count: 23