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PDE6C encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Additionally we are shipping and many more products for this protein.
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Human Polyclonal PDE6C Primary Antibody for IHC (p), WB - ABIN653683
Xu, Morris, Thapa, Ma, Michalakis, Biel, Baehr, Peshenko, Dizhoor, Ding: cGMP accumulation causes photoreceptor degeneration in CNG channel deficiency: evidence of cGMP cytotoxicity independently of enhanced CNG channel function. in The Journal of neuroscience : the official journal of the Society for Neuroscience 2013
AIPL1 (show AIPL1 Antibodies)-mediated production of folded PDE6C is markedly elevated in the presence of the inhibitory Pgamma-subunit of PDE6.
A comprehensive in vivo assessment of retinal morphology and function was performed in cpfl1 (cone photoreceptor function loss 1) mice to better define the disease process in this model of cone dystrophies.
the spontaneous mouse mutant cpfl1 that features a lack of cone function and rapid degeneration of the cone photoreceptors represents a homologous mouse model for PDE6C associated achromatopsia.
A novel homozygous PDE6C mutation was identified as the cause of ACHM. In addition, we identified an OPN1SW (show OPN1SW Antibodies) mutation in the sibling with complete achromatopsia.
The majority (n = 12) of patients were either homozygotes or compound heterozygotes for known achromatopsia alleles, two in CNGB3 (show CNGB3 Antibodies) (p.T383fsX and p.T296YfsX9) and three in CNGA3 (show CNGA3 Antibodies) (p.R283Q, p.R427C and p.L527R).
analysis of amino acid residues responsible for the selectivity of tadalafil binding to two closely related phosphodiesterases, PDE5 (show PDE5A Antibodies) and PDE6
Eleven different PDE6C mutations were found including two nonsense mutations, three mutations affecting transcript splicing as shown by minigene assays, one 1 bp-insertion and five missense mutations
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
the identification of mutations in the PDE6C gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase as a cause of autosomal recessive achromatopsia was reported.
This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4).
phosphodiesterase 6C, cGMP-specific, cone, alpha prime
, cone cGMP phosphodiesterase-like
, cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'-like
, phosphodiesterase 6C, cGMP specific, cone, alpha prime
, cyclic nucleotide phosphodiesterase 6c
, cGMP phosphodiesterase 6C
, cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'
, PDE V-C1
, phosphodiesterase, cyclic GMP (cone receptor)
, cone cGMP phosphodiesterase a'-subunit