Recombinant Human PDE6C protein, GST-tagged

Cat.No. : PDE6C-444H
Product Overview : Recombinant Human PDE6C fused with GST tag at N-terminal was expressed in Insect cells.
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Description : PDE6C or phosphodiesterase 6C, cGMP-specific, cone, alpha prime 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. PDE6C protein consists of 22 exons spanning approximately 48 kb of genomic DNA. The intron-exon structure of human PDE6C is very similar to that of rod PDE6B. A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene and mutations in PDE6C are associated with cone dystrophy type 4 (COD4).
Source : Insect cells
Species : Human
Tag : GST
Form : 50mM Tris-HCl, pH 7.5, 50mM NaCl, 10mM glutathione, 0.1mM EDTA, 0.25mM DTT, 0.1mM PMSF, 25% glycerol.
Molecular Mass : ~125 kDa
Purity : > 75%
Stability : 1 year at -70 centigrade from the date of shipment
Storage : Store product at –70 centigrade. For optimal storage, aliquot target into smaller quantities after centrifugation and store at recommended temperature. For most favorable performance, avoid repeated handling and multiple freeze/thaw cycles.
Concentration : 0.1 ug/uL
Gene Name : PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime [ Homo sapiens ]
Official Symbol : PDE6C
Synonyms : PDE6C; phosphodiesterase 6C, cGMP-specific, cone, alpha prime; cone cGMP-specific 3,5-cyclic phosphodiesterase subunit alpha; PDEA2; cGMP phosphodiesterase 6C; COD4;
Gene ID : 5146
mRNA Refseq : NM_006204
Protein Refseq : NP_006195
MIM : 600827
UniProt ID : P51160
Chromosome Location : 10q24
Pathway : Purine metabolism, organism-specific biosystem; Purine metabolism, conserved biosystem; Visual signal transduction: Cones, organism-specific biosystem;
Function : 3,5-cyclic-GMP phosphodiesterase activity; cGMP binding; hydrolase activity; metal ion binding; nucleotide binding; phosphoric diester hydrolase activity;

For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.

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Q&As (5)

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Can PDE6C-targeted therapies be used for other types of retinal degeneration? 08/10/2022

While primarily associated with specific forms of retinal degeneration, research is ongoing to explore the broader applicability of PDE6C-targeted therapies.

How early can PDE6C mutations be detected, and what is the significance of early diagnosis? 05/16/2022

PDE6C mutations can be detected through genetic testing, and early diagnosis is crucial for implementing timely interventions and potential future therapies.

Can PDE6C mutations be used as a diagnostic marker for retinal diseases? 07/24/2019

Yes, genetic testing for PDE6C mutations can aid in the diagnosis of certain retinal diseases, helping to identify the underlying genetic cause.

Is PDE6C exclusively expressed in the human retina? 04/27/2018

PDE6C is primarily expressed in the retina, but low levels of expression have also been detected in certain non-ocular tissues.

How might gene therapy be applied in the context of PDE6C mutations? 10/22/2016

Gene therapy aims to introduce functional PDE6C genes into the retina to compensate for the mutated or non-functional genes, potentially restoring normal vision.

Customer Reviews (3)

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09/14/2022

    Their expertise and prompt responsiveness exemplify their dedication to providing customers with solutions and guidance.

    03/09/2016

      The PDE6C protein offers exceptional quality that seamlessly aligns with my experimental requirements.

      02/03/2016

        By utilizing the PDE6C protein, I can approach my research with unwavering confidence in its quality, along with the unparalleled support provided by its manufacturer.

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