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Shirley, MA 01464
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20700 44th Avenue W
Lynnwood, WA 98036
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PDE6B / PDE6 Beta
phosphodiesterase 6B, cGMP-specific, rod, beta
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 Name: | phosphodiesterase 6B, cGMP-specific, rod, beta |
| Family/Subfamily: | Phosphodiesterase , PDE - photoreceptor |
| Synonyms: | PDE6B, Beta-PDE, CSNBAD2, GMP-PDE beta, Rd1, RP40, CGMP phosphodiesterase beta, CSNB3, PDEB, Phosphodiesterase 6b |
| Target Sequences: | NM_000283 NP_000274.2 P35913 |
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