在线日韩日本国产亚洲丨少妇伦子伦情品无吗丨欧美性猛交xxxx免费看蜜桃丨精品人妻系列无码一区二区三区丨亚洲精品无码不卡在线播放

Your Good Partner in Biology Research

RDH12 Antibody

  • 中文名稱:
    RDH12兔多克隆抗體
  • 貨號:
    CSB-PA842727LA01HU
  • 規格:
    ¥440
  • 圖片:
    • Immunohistochemistry of paraffin-embedded human kidney tissue using CSB-PA842727LA01HU at dilution of 1:100
    • Immunohistochemistry of paraffin-embedded human gastric cancer using CSB-PA842727LA01HU at dilution of 1:100
  • 其他:

產品詳情

  • 產品名稱:
    Rabbit anti-Homo sapiens (Human) RDH12 Polyclonal antibody
  • Uniprot No.:
  • 基因名:
    RDH12
  • 別名:
    All trans and 9 cis retinol dehydrogenase antibody; All-trans and 9-cis retinol dehydrogenase antibody; LCA 3 antibody; LCA13 antibody; LCA3 antibody; RDH 12 antibody; RDH12 antibody; RDH12_HUMAN antibody; Retinol dehydrogenase 12 (all trans/9 cis/11 cis) antibody; Retinol dehydrogenase 12 all trans and 9 cis antibody; Retinol dehydrogenase 12 antibody; RP53 antibody; SDR7C2 antibody; Short chain dehydrogenase/reductase family 7C member 2 antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human
  • 免疫原:
    Recombinant Human Retinol dehydrogenase 12 protein (1-316AA)
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    Non-conjugated

    本頁面中的產品,RDH12 Antibody (CSB-PA842727LA01HU),的標記方式是Non-conjugated。對于RDH12 Antibody,我們還提供其他標記。見下表:

    可提供標記
    標記方式 貨號 產品名稱 應用
    HRP CSB-PA842727LB01HU RDH12 Antibody, HRP conjugated ELISA
    FITC CSB-PA842727LC01HU RDH12 Antibody, FITC conjugated
    Biotin CSB-PA842727LD01HU RDH12 Antibody, Biotin conjugated ELISA
  • 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
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA, IHC
  • 推薦稀釋比:
    Application Recommended Dilution
    IHC 1:20-1:200
  • 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:
    Retinoids dehydrogenase/reductase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinal. Shows very weak activity towards 13-cis-retinol. Also exhibits activity, albeit with lower affinity than for retinaldehydes, towards lipid peroxidation products (C9 aldehydes) such as 4-hydroxynonenal and trans-2-nonenal. May play an important function in photoreceptor cells to detoxify 4-hydroxynonenal and potentially other toxic aldehyde products resulting from lipid peroxidation. Has no dehydrogenase activity towards steroids.
  • 基因功能參考文獻:
    1. The RDH12 compound heterozygous variants might be the cause of the LCA family. Our study adds to the molecular spectrum of RDH12-related retinopathy and offers an effective example of the power of phenotype-genotype correlations in molecular diagnosis of LCA. PMID: 28471114
    2. Peripapillary sparing is a novel phenotypic feature of RDH12-associated Leber congenital amaurosis. PMID: 28513254
    3. The mutation detection of RDH12 in this study also implies that whole exome sequencing is a useful method for detection of potential mutations in small families with atypical clinical manifestations of genetic disease. PMID: 26848971
    4. We report 4 children from 3 consanguineous families with bilateral elevation deficiency in the context of retinal dystrophy. All were found to harbor recessive mutations in retinal dehydrogenase 12 (RDH12). PMID: 26691045
    5. Mutations in the AIPL1 and RDH12 genes associated with leber congenital amaurosis in two Turkish families. PMID: 25148430
    6. Here we demonstrate that microtubule-associated protein 1 light chain 3A (LC3A), a marker of autophagy, is related to hypoxia and poor prognosis in clear cell ovarian cancer. PMID: 22926683
    7. The three patients with Leber congenital amaurosis/early-onset retinal dystrophy had a progressive decrease of their vision with the formation of a posterior staphyloma. PMID: 24752437
    8. Two novel missense mutations in the RDH12 gene are associated with retinitis pigmentosa. PMID: 23900199
    9. Seventeen novel mutations in the RDH12 gene were identified that accounted for approximately 7% of disease in a cohort of patients diagnosed with Leber congenital amaurosis and early-onset retinal dystrophy. PMID: 22065924
    10. LCA has been associated with sequence variations of 14 different genes; in approximately 30% of all cases pathogenic mutations remain to be determined. PMID: 20736127
    11. The retina RDH12 reduces 4-HNE to a nontoxic alcohol, protecting cellular macromolecules against oxidative modification and protecting photoreceptors from light-induced apoptosis. PMID: 19686838
    12. Results suggest that the accelerated degradation of RDH12 mutants by the ubiquitin-proteasome system contributes to the pathophysiology and phenotypic variability associated with mutations in the RDH12 gene. PMID: 20006610
    13. Our studies show that RDH12 is associated with retinal dystrophy and encodes an enzyme with a unique, nonredundant role in the photoreceptor cells. PMID: 15258582
    14. All patients harboring RDH12 mutations had a severe yet progressive rod-cone dystrophy with severe macular atrophy but no or mild hyperopia. PMID: 15322982
    15. In most tissues RDH12 primarily contributes to the reduction of all-trans-retinaldehyde; however, in cells undergoing oxidative stress, such as photoreceptors, RDH12 might also play a role in detoxification of lipid peroxidation products. PMID: 15865448
    16. The results demand critical consideration of the human disease mechanism and the therapeutic approach in patients with mutations in the putative visual cycle gene RDH12. PMID: 17197551
    17. Ophthalmic findings in persons with RDH12 mutations suggest that RDH12 loss-of-function results in a characteristic form of early and progressive rod-cone degeneration PMID: 17389517
    18. Human type 12 RDH reduces dihydrotestosterone to androstanediol, and is thus involved in steroid metabolism. PMID: 17512723
    19. in patients with Leber congenital amaurosis, autosomal recessive retinitis pigmentosa, and autosomal dominant/recessive cone-rod dystrophies six different variants of RDH12 were observed of which three variants were novel PMID: 17512964
    20. The demonstration that mutations in a gene previously associated with recessive Leber congenital amaurosis can also cause dominant RP illustrates the wide phenotypic variability of retinal degeneration genes. PMID: 18779497
    21. The RDH12-associated phenotype is not homogeneous, the position and nature of the mutations clearly influence the pathologic expression of this disease. PMID: 19011012

    顯示更多

    收起更多

  • 相關疾病:
    Leber congenital amaurosis 13 (LCA13); Retinitis pigmentosa 53 (RP53)
  • 亞細胞定位:
    Endoplasmic reticulum membrane.
  • 蛋白家族:
    Short-chain dehydrogenases/reductases (SDR) family
  • 組織特異性:
    Widely expressed, mostly in retina, kidney, brain, skeletal muscle, pancreas and stomach.
  • 數據庫鏈接:

    HGNC: 19977

    OMIM: 608830

    KEGG: hsa:145226

    STRING: 9606.ENSP00000267502

    UniGene: Hs.415322



主站蜘蛛池模板: 里番本子纯肉侵犯肉全彩无码| 久久婷婷五月综合色丁香| 又大又黄又粗又爽的免费视频 | 三级理论中文字幕在线播放| 亚洲精品宾馆在线精品酒店| 天堂www中文资源| 中国老熟女重囗味hdxx| 国产一性一交一伦一a片| 国产99在线 | 中文| 亚洲性人人天天夜夜摸| 亚洲超清无码制服丝袜无广告 | 国产激情无码一区二区app| 久青草久青草视频在线观看| 熟妇无码乱子成人精品| 女邻居丰满的奶水| 亚洲天堂2017无码中文| 动漫av一区二区在线观看| 夜夜欢性恔真人免费视频| 两女女百合互慰av赤裸无遮挡| 麻豆精品一区二区综合av| 国产又爽又黄无码无遮挡在线观看 | 无码国产午夜福利片在线观看| 午夜性色吃奶添下面69影院 | 久久国产乱子伦免费精品| 国产口爆吞精在线视频2020版| 中文字幕亚洲色妞精品天堂| 日韩精品无码久久久久久| 国产中的精品av一区二区 | 天天av天天爽无码中文| 少妇与子乱在线观看| 亚洲第一无码av无码专区| 99香蕉国产精品偷在线观看| 国产精品卡一卡二卡三| 国产成人精品视频网站| 国产裸体歌舞一区二区| 少妇人妻av无码专区| 亚洲日本中文字幕天天更新| 无翼乌工口全彩肉肉无遮挡18| 伊人精品无码av一区二区三区| 亚洲乱码一区二区三区在线观看| 久久人人爽人人爽人人片ⅴ |