PDE6B Recombinant Protein

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]

PDE6B: This protein participates in processes of transmission and amplification of the visual signal. Necessary for the formation of a functional phosphodiesterase holoenzyme. Defects in PDE6B are the cause of retinitis pigmentosa type 40 (RP40). RP40 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Defects in PDE6B are a cause of congenital stationary night blindness autosomal dominant type 2 (CSNBAD2); also known as congenital stationary night blindness Rambusch type. Congenital stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision. Belongs to the cyclic nucleotide phosphodiesterase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 3.1.4.35; Phosphodiesterase

Chromosomal Location of Human Ortholog: 4p16.3

Cellular Component: plasma membrane

Molecular Function: 3',5'-cyclic-GMP phosphodiesterase activity

Biological Process: cytosolic calcium ion homeostasis; GMP metabolic process; phototransduction, visible light; regulation of rhodopsin mediated signaling; rhodopsin mediated signaling; Wnt receptor signaling pathway, calcium modulating pathway

Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 2; Retinitis Pigmentosa 40