Western Blot
Positive WB detected in: Hela whole cell lysate, SH-SY5Y whole cell lysate
All lanes: PDE6C antibody at 3.7μg/ml
Secondary
Goat polyclonal to rabbit IgG at 1/50000 dilution
Predicted band size: 100 kDa
Observed band size: 100 kDa
Immunofluorescence staining of A549 cells with CSB-PA23139A0Rb at 1:66, counter-stained with DAPI. The cells were fixed in 4% formaldehyde, permeabilized using 0.2% Triton X-100 and blocked in 10% normal Goat Serum. The cells were then incubated with the antibody overnight at 4°C. The secondary antibody was Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L).
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期:
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
As cone-specific cGMP phosphodiesterase, it plays an essential role in light detection and cone phototransduction by rapidly decreasing intracellular levels of cGMP.
基因功能參考文獻(xiàn):
This study reveals two general mechanisms of missense PDE6C mutations underlying retinal diseases: (a) inability of AIPL1 to fold mutant PDE6C proteins leading to complete catalytic inactivity and (b) failure of P gamma regulatory subunit to serve as co-chaperone with AIPL1 in folding of mutant PDE6C. PMID: 28583373
A novel homozygous PDE6C mutation was identified as the cause of ACHM. In addition, we identified an OPN1SW mutation in the sibling with complete achromatopsia. PMID: 25605338
Expression of PDE6 in rod photoreceptors show that the cone PDE6 isoform is responsible for the difference in light adaptation between rods and cones. PMID: 26085644
The majority (n = 12) of patients were either homozygotes or compound heterozygotes for known achromatopsia alleles, two in CNGB3 (p.T383fsX and p.T296YfsX9) and three in CNGA3 (p.R283Q, p.R427C and p.L527R). PMID: 23362848
Missense mutations, nonsense mutations, splice mutations, and small deletions and insertions in the affected genes cause achromatopsia. PMID: 21267001
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 PMID: 21127010
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. PMID: 19615668
analysis of human cone phosphodiesterase-6 ectopically expressed in Xenopus laevis rods PMID: 19801642
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. PMID: 19887631