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Mouse (Murine) Polyclonal PDE6H Primary Antibody für WB - ABIN1881645
Piri, Gao, Danciger, Mendoza, Fishman, Farber: A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy. in Ophthalmology 2005
Show all 4 Pubmed References
These findings add PDE6H to the set of genes involved in autosomal-recessive cone disorders and demonstrate the importance of the inhibitory gamma subunit in cone phototransduction
Our results indicate that mutations in the PDE6H gene are not common, because only 1 of 240 patients with cone dystrophy showed a single nucleotide substitution in the 5' UTR (zeige UTS2R Antikörper) of PDE6H mRNA
Pde6h deficiency mice suggests no defects in cone/rod-driven retinal signaling and therefore preserved visual functions.
The interdependency of phosphorylation of T22 and T35 suggests that light-induced, post-translational modification of PDE6gamma is essential for the regulation of G-protein signaling.
Our results show that the PDE6gamma binding sites of PDE6 alpha and beta are accessible to excess (presumably cytoplasmic) PDE6gamma in the light, once endogenous PDE6gamma has been displaced from its binding site by Talpha-GTP (zeige AK3 Antikörper).
This experiments provide evidence for modulation of Pde6h dependent response turnoff in mouse rod photoreceptors.
This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A).
, retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
, cone phosphodiesterase 6 gamma
, cone-like cGMP-phosphodiesterase 6 gamma subunit type 2
, phosphodiesterase 6G, cGMP-specific, rod, gamma