2024年12月25日 · PDE6B (Phosphodiesterase 6B) is a Protein Coding gene. Diseases associated with PDE6B include Retinitis Pigmentosa 40 and Night Blindness, Congenital Stationary, Autosomal Dominant 2. Among its related pathways are Visual phototransduction and Autodegradation of the E3 ubiquitin ligase COP1.

The PDE6B gene provides instructions for making a protein that is one part (the beta subunit) of a protein complex called cGMP-PDE. This complex is found in specialized light receptor cells called rods.

In this retrospective, longitudinal, observational cohort study, we investigated the phenotypic and genotypic features of retinitis pigmentosa associated with variants in the PDE6B gene.

PDE6, also known as the photoreceptor phosphodiesterases, contains three genes, PDE6A (chromosomes 5q31.2–34), PDE6B (chromosomes 4p16.3), and PDE6C (chromosomes 10q24). In addition, PDE6D (chromosome 2q35-q36) allows solubilization of membrane-bound rod inhibitory subunits of PDE6, PDE6G (chromosome 17q25), and PDE6H (chromosome 12p13) …

A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews. Mutation in PDE6B gene is associated with autosomal recessive retinitis pigmentosa disease progression. A novel PDE6B founder variant is likely to account for 16% of recessive inherited retinal dystrophy in Maori.

2025年2月8日 · Title: Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration. Photoreceptor Phosphodiesterase (PDE6): Structure, Regulatory Mechanisms, and Implications for Treatment of Retinal Diseases.

2024年6月17日 · Clinical resource with information about PDE6B, Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa 40, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

Rod PDE is a peripheral membrane heterotrimeric enzyme made up of alpha (PDE6A; 180071), beta (PDE6B), and gamma (PDE6G; 180073) subunits (Khramtsov et al., 1993). Using the bovine PDE beta subunit as probe, Khramtsov et al. (1993) …

In this review, we focus attention on recent advances in biochemical and structural elucidation of the exquisite regulatory mechanisms in the phototransduction pathway, focusing on the structure, function, and regulation of the central effector enzyme, phosphodiesterase-6 (PDE6).

Phosphodiesterase-6 (PDE6) is the key effector enzyme of the phototransduction cascade in rods and cones. The catalytic core of rod PDE6 is a unique heterodimer of PDE6A and PDE6B catalytic subunits.