PDE6C Antibody, Biotin conjugated
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中文名稱：PDE6C兔多克隆抗體, Biotin偶聯(lián)
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貨號：CSB-PA23139D0Rb
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規(guī)格：￥880
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其他：
產(chǎn)品詳情
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產(chǎn)品名稱：Rabbit anti-Homo sapiens (Human) PDE6C Polyclonal antibody
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Uniprot No.：
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基因名：PDE6C
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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
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宿主：Rabbit
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反應(yīng)種屬：Human
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免疫原：Recombinant Human Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' protein (285-451AA)
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免疫原種屬：Homo sapiens (Human)
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標記方式：Biotin
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克隆類型：Polyclonal
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抗體亞型：IgG
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純化方式：>95%, Protein G purified
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濃度：It differs from different batches. Please contact us to confirm it.
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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
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應(yīng)用范圍：ELISA
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Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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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.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點詳情
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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.
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基因功能參考文獻：
- 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
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相關(guān)疾病：Cone dystrophy 4 (COD4); Achromatopsia 5 (ACHM5)
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亞細胞定位：Cell membrane; Lipid-anchor; Cytoplasmic side.
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蛋白家族：Cyclic nucleotide phosphodiesterase family
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數(shù)據(jù)庫鏈接：
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