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Human Polyclonal PDE6A Primary Antibody for IHC, IHC (p) - ABIN4344437
Sothilingam, Garcia Garrido, Jiao, Buena-Atienza, Sahaboglu, Trifunović, Balendran, Koepfli, Mühlfriedel, Schön, Biel, Heckmann, Beck, Michalakis, Wissinger, Seeliger, Paquet-Durand: Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype. in Human molecular genetics 2015
Show all 3 Pubmed References
PDE6alpha' activity is important for the survival of cones in zebrafish
The approximately 11 A map revealed previously unseen features of PDE6, and each domain was readily fit with high resolution structures.
Structural analysis of cGMP phosphodiesterase 6 alpha, beta and gamma interactions
the unique Palphabeta heterodimer contributes to the sophisticated regulation in visual transduction through interaction with Pgamma
although Pgamma-mediated regulation plays the dominant role in visual excitation, the direct, inter-domain allosteric regulation may play a feedback role in light adaptational processes during phototransduction
Mutation in PDE6A gene is associated with autosomal recessive retinitis pigmentosa disease progression.
By using targeted next-generation sequencing (NGS) method, we identified a compound heterozygous mutation in PDE6A gene that is associated with retinitis pigmentosa in a Chinese family.
this is the first phenotypic description of arRP due to homozygous IVS6+1G>A mutations in PDE6A and these seem here to be associated with severe RP leading to early extinction of rod responses as well as reduced macular function.
report two splice acceptor site variations in PDE6A in consanguineous Pakistani families who manifested cardinal symptoms of autosomal recessive retinitis pigmentosa
analysis of amino acid residues responsible for the selectivity of tadalafil binding to two closely related phosphodiesterases, PDE5 and PDE6
the p.Val685Met mutation in PDE6A causes retinal degeneration in humans
Rod phosphodiesterase-6 PDE6A and PDE6B subunits are enzymatically equivalent.
full transcriptional activity of the PDE6A gene requires both Nrl and Crx
Homozygous single base pair change; c.889C->T, single base pair insertion; c.2218-2219insT, and single base pair substitution in the splice acceptor site; IVS10-2A->G in each of three families.
Study confirms the severity of different Pde6a mutations and indicates that compound heterozygous mutants behave like intermediates of the respective homozygous situations homologous to a case of human retinitis pigmentosa.
cone PDE6alpha' can functionally substitute for rod PDEalphabeta in vivo, conferring treated rods with distinct physiological properties.
A new mutation in Pde6a was identifies in a mouse model of retinal degeneration.
Phosphodiesterase 6 is involved in the recovery-accelerating effect of red light on the disrupted epidermal permeability barrier.
Either rod or cone PDE6 can effectively couple to the cone phototransduction pathway to mediate visual signaling.
cGMP-phosphodiesterase 6 can be activated by another cancer-retina antigen, transducin, through Wnt5a-Frizzled-2 cascade, which leads to a lowering of cGMP and an increase in intracellular calcium mobilization.
AIPL1 interacts with the catalytic subunit (alpha) of PDE6 and is needed for the assembly of functional rod PDE6 subunits.
missense mutations were found in the catalytic domain of the Pde6a gene in two mouse models from an ethyl nitrosourea chemical mutagenesis screen.
This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa.
, rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha
, phosphodiesterase 6A, alpha subunit
, phosphodiesterase 6A, cGMP-specific, rod, alpha
, phosphodiesterase 6A-like
, rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha-like
, GMP-PDE alpha
, PDE V-B1
, phosphodiesterase, cyclic GMP (rod receptor), alpha polypeptide
, cGMP phosphodiesterase alpha subunit
, rod photoreceptor cGMP phosphodiesterase alpha subunit
, cGMP phosphodiesterase alpha
, cGMP-phosphodiesterase alpha-subunit