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PDE6C Antibody

  • 中文名稱:
    PDE6C兔多克隆抗體
  • 貨號:
    CSB-PA755655
  • 規格:
    ¥1100
  • 圖片:
    • Gel: 6%SDS-PAGE, Lysate: 40 μg, Lane: A172 cells, Primary antibody: CSB-PA755655(PDE6C Antibody) at dilution 1/1400, Secondary antibody: Goat anti rabbit IgG at 1/8000 dilution, Exposure time: 10 seconds
  • 其他:

產品詳情

  • Uniprot No.:
  • 基因名:
    PDE6C
  • 別名:
    5''-cyclic phosphodiesterase subunit alpha'' antibody; cGMP phosphodiesterase 6C antibody; COD4 antibody; Cone cGMP specific 3' 5' cyclic phosphodiesterase subunit alpha' antibody; Cone cGMP-specific 3'' antibody; PDE 6C antibody; PDE6 alpha prime antibody; PDE6 alpha' antibody; PDE6C antibody; PDE6C_HUMAN antibody; PDEA2 antibody; Phosphodiesterase 6C cGMP specific cone alpha prime antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human
  • 免疫原:
    Synthetic peptide of Human PDE6C
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    Non-conjugated
  • 抗體亞型:
    IgG
  • 純化方式:
    Antigen affinity purification
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA,WB
  • 推薦稀釋比:
    Application Recommended Dilution
    ELISA 1:2000-1:5000
    WB 1:500-1:2000
  • Protocols:
  • 儲存條件:
    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.

產品評價

靶點詳情

  • 功能:
    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:
    1. 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
    2. 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
    3. 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
    4. 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
    5. Missense mutations, nonsense mutations, splice mutations, and small deletions and insertions in the affected genes cause achromatopsia. PMID: 21267001
    6. 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
    7. Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. PMID: 19615668
    8. analysis of human cone phosphodiesterase-6 ectopically expressed in Xenopus laevis rods PMID: 19801642
    9. 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

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  • 相關疾病:
    Cone dystrophy 4 (COD4); Achromatopsia 5 (ACHM5)
  • 亞細胞定位:
    Cell membrane; Lipid-anchor; Cytoplasmic side.
  • 蛋白家族:
    Cyclic nucleotide phosphodiesterase family
  • 數據庫鏈接:

    HGNC: 8787

    OMIM: 600827

    KEGG: hsa:5146

    STRING: 9606.ENSP00000360502

    UniGene: Hs.658121



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