Gene: PDE6B

Alternate names for this Gene: CSNB3|CSNBAD2|GMP-PDEbeta|PDEB|RP40|rd1

Gene 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4p16.3

Description of this Gene: phosphodiesterase 6B

Type of Gene: protein-coding

Gene: PDE6B-AS1

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rs121918582 in PDE6B;PDE6B-AS1 gene and NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 PMID 8075643 1994 Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.

rs121918579 in PDE6B;PDE6B-AS1 gene and Retinitis Pigmentosa PMID 8394174 1993 Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.

PMID 26497376 2015 Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.