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AKR1D1 Antibody

  • 货号：
    CSB-PA970433
  • 规格：
    ￥1100
  • 图片：
    • The image on the left is immunohistochemistry of paraffin-embedded Human liver cancer tissue using CSB-PA970433(AKR1D1 Antibody) at dilution 1/25, on the right is treated with fusion protein. (Original magnification: ×200)
    • Gel: 8%SDS-PAGE, Lysate: 80 μg, Lane: Human liver cancer tissue, Primary antibody: CSB-PA970433(AKR1D1 Antibody) at dilution 1/450, Secondary antibody: Goat anti rabbit IgG at 1/8000 dilution, Exposure time: 1 minute
  • 其他：

产品详情

  • Uniprot No.：
    P51857
  • 基因名：
    AKR1D1
  • 别名：
    3-oxo-5-beta-steroid 4-dehydrogenase antibody; 3o5bred antibody; AK1D1_HUMAN antibody; AKR1D1 antibody; aldo keto reductase family 1 member D1 (delta 4 3 ketosteroid 5 beta reductase) antibody; Aldo keto reductase family 1 member D1 antibody; Aldo-keto reductase family 1 member D1 antibody; CBAS2 antibody; Delta(4) 3 ketosteroid 5 beta reductase antibody; Delta(4) 3 oxosteroid 5 beta reductase antibody; Delta(4)-3-ketosteroid 5-beta-reductase antibody; Delta(4)-3-oxosteroid 5-beta-reductase antibody; SRD5B1 antibody; steroid 5 beta reductase beta polypeptide 1 (3 oxo 5 beta steroid delta 4 dehydrogenase beta 1) antibody; steroid 5 beta reductase antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Fusion protein of Human AKR1D1
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen affinity purification
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC
  • 推荐稀释比：
    Application Recommended Dilution
    ELISA 1:2000-1:5000
    WB 1:500-1:2000
    IHC 1:25-1:100
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

产品评价

靶点详情

  • 功能：
    Catalyzes the stereospecific NADPH-dependent reduction of the C4-C5 double bond of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure to yield an A/B cis-ring junction. This cis-configuration is crucial for bile acid biosynthesis and plays important roles in steroid metabolism. Capable of reducing a broad range of delta-(4)-3-ketosteroids from C18 (such as, 17beta-hydroxyestr-4-en-3-one) to C27 (such as, 7alpha-hydroxycholest-4-en-3-one).
  • 基因功能参考文献：
    1. infant proved to be a compound heterozygote of the AKR1D1 variants c.579+2delT and c.853C>T(p.Q285X), two novel mutations originated from his mother and father, respectively PMID: 28697823
    2. Impaired NADPH binding and hydride transfer is the molecular basis for bile acid deficiency in patients with the P133R mutation in AKR1D1. PMID: 26418565
    3. When different steroid substrates were used in single turnover experiments with AKR1D1. PMID: 25500266
    4. AKR1D1 generates all 5beta-dihydrosteroids in the C19-C27 steroid series. PMID: 24513054
    5. Despite having high kchem values with steroid hormones, the kinetic control of AKR1D1 is consistent with the enzyme catalysing the slowest step in the catabolic sequence of steroid hormone transformation in the liver. PMID: 24894951
    6. Studies indicate that mutations in aldo-keto reductase family 1 (AKR1) enzymes AKR1C1 and AKR1C4 are responsible for sexual development dysgenesis and mutations in AKR1D1 are causative in bile-acid deficiency. PMID: 24189185
    7. Novel homozygous frameshift mutations in the AKR1D1 gene and in the SKIV2L gene were found in a family with severe infantile liver disease. PMID: 23679950
    8. Consistent with AKR1D1's putative role as a driver of the P450 subnetwork, the AKR1D1 3'-UTR SNP was significantly associated with increased hepatic mRNA expression of multiple P450s PMID: 23704699
    9. These studies show how a single point mutation in AKR1D1 can introduce HSD activity with unexpected configurational and stereochemical preference. PMID: 22437839
    10. all five mutations identified in patients with functional bile acid deficiency strongly affected AKR1D1 enzyme functionality and therefore may be causal for this disease PMID: 21185810
    11. determined the substrate specificity of homogeneous human recombinant AKR1D1 using C18, C19, C21, and C27 Delta(4)-ketosteroids and assessed the pH-rate dependence of the enzyme. PMID: 21255593
    12. analysis of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency PMID: 20522910
    13. In placenta and myometrium, relative expression decreased significantly in association with labour, by about two-fold and 10-fold, respectively. These data are consistent with a possible role for 5betaDHP in the onset of spontaneous human labour. PMID: 16123077
    14. analysis of human liver Delta4-3-ketosteroid 5beta-reductase (AKR1D1) crystal structure and implications for substrate binding and catalysis PMID: 18407998
    15. The structures of an AKR1D1-NADP(+) binary complex, and AKR1D1-NADP(+)-cortisone, AKR1D1-NADP(+)-progesterone and AKR1D1-NADP(+)-testosterone ternary complexes at high resolutions, is reported. PMID: 18848863
    16. Structure determination of human AKR1C4 and homology modelling of AKR1D1 followed by docking experiments were used to explore active site geometries. PMID: 19013211
    17. Delta4-3-ketosteroid 5beta-reductase (AKR1D1) has an alternative binding site responsible for substrate inhibition PMID: 19075558
    18. SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency. PMID: 19175828

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  • 相关疾病：
    Congenital bile acid synthesis defect 2 (CBAS2)
  • 亚细胞定位：
    Cytoplasm.
  • 蛋白家族：
    Aldo/keto reductase family
  • 组织特异性：
    Highly expressed in liver. Expressed in testis and weakly in colon.
  • 数据库链接：

    HGNC: 388

    OMIM: 235555

    KEGG: hsa:6718

    STRING: 9606.ENSP00000242375

    UniGene: Hs.201667