PDE6B


Also found in: Acronyms.

PDE6B

A gene on chromosome 5q31.2-q34 that encodes the beta subunit of a herterotrimeric (one alpha, one beta and two gamma subunits) cyclic nucleotide phosphodiesterase, which hydrolyses cGMP to 5'-GMP. Expressed in retinal rods, PDE6B is a key phototransduction enzyme in transmitting and amplifying visual signals.

Molecular pathology
PDE6B mutations are linked to retinitis pigmentosa and autosomal dominant congenital stationary night blindness.
References in periodicals archive ?
The trial will be structured as a monocentric, open-label, dose-escalation, Phase I/II study and will investigate the compound's impact on 12 patients aged 18 years or older, who are suffering from a retinitis pigmentosa caused by mutations in the PDE6B gene, with no other syndromic manifestations.
"We are pleased to initiate this Phase I/II trial to confirm the safety of HORA PDE6B, administered via unilateral subretinal injection, for the treatment of this form of retinitis pigmentosa."
Morgan et al., "Genotype-phenotype correlation of mouse Pde6b mutations," Investigative Ophthalmology and Visual Science, vol.