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PDE6C Antibody, FITC conjugated

  • 中文名稱:
    PDE6C兔多克隆抗體, FITC偶聯(lián)
  • 貨號(hào):
    CSB-PA23139C0Rb
  • 規(guī)格:
    ¥880
  • 其他:

產(chǎn)品詳情

  • 產(chǎn)品名稱:
    Rabbit anti-Homo sapiens (Human) PDE6C Polyclonal antibody
  • 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(yīng)種屬:
    Human
  • 免疫原:
    Recombinant Human Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' protein (285-451AA)
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標(biāo)記方式:
    FITC
  • 克隆類型:
    Polyclonal
  • 抗體亞型:
    IgG
  • 純化方式:
    >95%, Protein G purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 產(chǎn)品提供形式:
    Liquid
  • 儲(chǔ)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(chǎn)品評(píng)價(jià)

靶點(diǎn)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(xiàn):
    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(guān)疾病:
    Cone dystrophy 4 (COD4); Achromatopsia 5 (ACHM5)
  • 亞細(xì)胞定位:
    Cell membrane; Lipid-anchor; Cytoplasmic side.
  • 蛋白家族:
    Cyclic nucleotide phosphodiesterase family
  • 數(shù)據(jù)庫(kù)鏈接:

    HGNC: 8787

    OMIM: 600827

    KEGG: hsa:5146

    STRING: 9606.ENSP00000360502

    UniGene: Hs.658121



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